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Volumn 64, Issue 1, 2014, Pages 68-87

Syndrome-associated soft tissue tumours

Author keywords

Desmoid type fibromatosis; Gardner fibroma; Li Fraumeni syndrome; Malignant peripheral nerve sheath tumour; Malignant rhabdoid tumour; Neurofibroma; Neurofibromatosis type I; Rhabdomyosarcoma; Schwannoma

Indexed keywords

BETA CATENIN; CD99 ANTIGEN; CLAUDIN 1; COLLAGEN TYPE 4; DICER; EPITHELIAL MEMBRANE ANTIGEN; GLIAL FIBRILLARY ACIDIC PROTEIN; GLUCOSE TRANSPORTER 1; ISOCITRATE DEHYDROGENASE 1; ISOCITRATE DEHYDROGENASE 2; MERLIN; MYOGENIN; NEUROFIBROMIN; NIBRIN; P CADHERIN; PLATELET DERIVED GROWTH FACTOR ALPHA RECEPTOR; PROTEIN PATCHED 1; PROTEIN S 100; PROTEIN TYROSINE PHOSPHATASE SHP 2; RAS PROTEIN; SMOOTH MUSCLE ACTIN; SYNAPTOPHYSIN; TUBERIN; WERNER SYNDROME PROTEIN;

EID: 84889877816     PISSN: 03090167     EISSN: 13652559     Source Type: Journal    
DOI: 10.1111/his.12280     Document Type: Review
Times cited : (24)

References (203)
  • 1
    • 84858774171 scopus 로고    scopus 로고
    • Some general considerations about the clinicopathologic aspects of soft tissue tumors in children and adolescents
    • Coffin CM, Alaggio R, Dehner LP. Some general considerations about the clinicopathologic aspects of soft tissue tumors in children and adolescents. Pediatr. Dev. Pathol. 2012; 15; 11-25.
    • (2012) Pediatr. Dev. Pathol. , vol.15 , pp. 11-25
    • Coffin, C.M.1    Alaggio, R.2    Dehner, L.P.3
  • 2
    • 84885175425 scopus 로고    scopus 로고
    • Tumour syndromes: introduction
    • In Fletcher CDM, Bridge JA, Hogendoorn PCW, Merterns F eds., 4th edn. Lyon, France: International Agency for Research on Cancer
    • Bridge JA, Mertens F. Tumour syndromes: introduction. In Fletcher CDM, Bridge JA, Hogendoorn PCW, Merterns F eds. WHO classification of tumours of soft tissue and bone, 4th edn. Lyon, France: International Agency for Research on Cancer, 2013; 368-371.
    • (2013) WHO classification of tumours of soft tissue and bone , pp. 368-371
    • Bridge, J.A.1    Mertens, F.2
  • 3
    • 17644371648 scopus 로고    scopus 로고
    • Congenital abnormalities and childhood cancer
    • Agha MM, Williams JI, Marrett L et al. Congenital abnormalities and childhood cancer. Cancer 2005; 103; 1939-1948.
    • (2005) Cancer , vol.103 , pp. 1939-1948
    • Agha, M.M.1    Williams, J.I.2    Marrett, L.3
  • 4
    • 77951082073 scopus 로고    scopus 로고
    • Inherited cancer syndromes in children and young adults
    • D'Orazio JA. Inherited cancer syndromes in children and young adults. J. Pediatr. Hematol. Oncol. 2010; 32; 195-228.
    • (2010) J. Pediatr. Hematol. Oncol. , vol.32 , pp. 195-228
    • D'Orazio, J.A.1
  • 5
    • 13744263782 scopus 로고    scopus 로고
    • Hereditary cancer predisposition syndromes
    • Garber JE, Offit K. Hereditary cancer predisposition syndromes. J. Clin. Oncol. 2005; 23; 276-292.
    • (2005) J. Clin. Oncol. , vol.23 , pp. 276-292
    • Garber, J.E.1    Offit, K.2
  • 6
    • 0027265630 scopus 로고
    • Patterns of cancer in the families of children with soft tissue sarcoma
    • Hartley AL, Birch JM, Blair V et al. Patterns of cancer in the families of children with soft tissue sarcoma. Cancer 1993; 72; 923-930.
    • (1993) Cancer , vol.72 , pp. 923-930
    • Hartley, A.L.1    Birch, J.M.2    Blair, V.3
  • 9
    • 0035312736 scopus 로고    scopus 로고
    • Multiple primary malignancies in association with soft tissue sarcomas
    • Merimsky O, Kollender Y, Issakov J et al. Multiple primary malignancies in association with soft tissue sarcomas. Cancer 2001; 91; 1363-1371.
    • (2001) Cancer , vol.91 , pp. 1363-1371
    • Merimsky, O.1    Kollender, Y.2    Issakov, J.3
  • 10
    • 15944401335 scopus 로고    scopus 로고
    • High incidence of malformation syndromes in a series of 1,073 children with cancer
    • Merks JHM, Caron HN, Hennekam RCM. High incidence of malformation syndromes in a series of 1, 073 children with cancer. Am. J. Med. Genet. 2005; 134A; 132-143.
    • (2005) Am. J. Med. Genet. , vol.134 A , pp. 132-143
    • Merks, J.H.M.1    Caron, H.N.2    Hennekam, R.C.M.3
  • 11
    • 0036977429 scopus 로고    scopus 로고
    • Genetic predisposition and screening in pediatric cancer
    • Pakakasama S, Tomlinson GE. Genetic predisposition and screening in pediatric cancer. Pediatr. Clin. North Am. 2002; 49; 1393-1413.
    • (2002) Pediatr. Clin. North Am. , vol.49 , pp. 1393-1413
    • Pakakasama, S.1    Tomlinson, G.E.2
  • 12
    • 0034764463 scopus 로고    scopus 로고
    • Childhood cancer etiology: recent reports
    • Ross JA, Davies SM. Childhood cancer etiology: recent reports. Med. Pediatr. Oncol. 2001; 37; 55-58.
    • (2001) Med. Pediatr. Oncol. , vol.37 , pp. 55-58
    • Ross, J.A.1    Davies, S.M.2
  • 13
    • 36048961176 scopus 로고    scopus 로고
    • Clinical relevance of molecular genetics to pediatric sarcomas
    • Slater O, Shipley J. Clinical relevance of molecular genetics to pediatric sarcomas. J. Clin. Pathol. 2007; 60; 1187-1194.
    • (2007) J. Clin. Pathol. , vol.60 , pp. 1187-1194
    • Slater, O.1    Shipley, J.2
  • 14
    • 46149095075 scopus 로고    scopus 로고
    • Pediatric nonrhabdomyosarcoma soft tissue sarcomas
    • Spunt SL, Skapek SX, Coffin CM. Pediatric nonrhabdomyosarcoma soft tissue sarcomas. Oncologist 2008; 13; 668-678.
    • (2008) Oncologist , vol.13 , pp. 668-678
    • Spunt, S.L.1    Skapek, S.X.2    Coffin, C.M.3
  • 15
    • 33748870748 scopus 로고    scopus 로고
    • Hereditary cancer predisposition in children: genetic basis and clinical implications
    • Strahm B, Malkin D. Hereditary cancer predisposition in children: genetic basis and clinical implications. Int. J. Cancer 2006; 119; 2001-2006.
    • (2006) Int. J. Cancer , vol.119 , pp. 2001-2006
    • Strahm, B.1    Malkin, D.2
  • 16
    • 84889880788 scopus 로고    scopus 로고
    • eds). SEER cancer statistics review, 1975-2010, National Cancer Institute, Bethesda, MD, on November 2012 SEER data submission posted to the SEER website, April, 2013. Accessed May 1, 2013.
    • Howlader N, Noone AM, Krapcho M et al. (eds). SEER cancer statistics review, 1975-2010, National Cancer Institute, Bethesda, MD, http://seer.cancer.gov/csr/1975_2010/based on November 2012 SEER data submission posted to the SEER website, April, 2013. Accessed May 1, 2013.
    • Howlader, N.1    Noone, A.M.2    Krapcho, M.3
  • 17
    • 7044240639 scopus 로고    scopus 로고
    • Inherited cancer in children: practical/ethical problems and challenges
    • Tischkowitz M, Rosser E. Inherited cancer in children: practical/ethical problems and challenges. Eur. J. Cancer 2004; 40; 2459-2470.
    • (2004) Eur. J. Cancer , vol.40 , pp. 2459-2470
    • Tischkowitz, M.1    Rosser, E.2
  • 18
    • 0014587529 scopus 로고
    • Soft-tissue sarcomas, breast cancer, and other neoplasms. A familial syndrome?
    • Li FP, Fraumeni JF Jr. Soft-tissue sarcomas, breast cancer, and other neoplasms. A familial syndrome? Ann. Intern. Med. 1969; 71; 747-752.
    • (1969) Ann. Intern. Med. , vol.71 , pp. 747-752
    • Li, F.P.1    Fraumeni Jr, J.F.2
  • 19
    • 0023715595 scopus 로고
    • A cancer family syndrome in twenty-four kindreds
    • Li FP, Fraumeni JF Jr, Mulvihill JJ et al. A cancer family syndrome in twenty-four kindreds. Cancer Res. 1988; 48; 5358-5362.
    • (1988) Cancer Res. , vol.48 , pp. 5358-5362
    • Li, F.P.1    Fraumeni Jr, J.F.2    Mulvihill, J.J.3
  • 20
    • 0031033506 scopus 로고    scopus 로고
    • Hereditary retinoblastoma, lipoma, and second primary cancers
    • Li FP, Abramson DH, Tarone RE et al. Hereditary retinoblastoma, lipoma, and second primary cancers. J. Natl Cancer Inst. 1997; 89; 83-84.
    • (1997) J. Natl Cancer Inst. , vol.89 , pp. 83-84
    • Li, F.P.1    Abramson, D.H.2    Tarone, R.E.3
  • 21
    • 0034071085 scopus 로고    scopus 로고
    • P53 germline mutations in childhood cancers and cancer risk for carrier individuals
    • Chompret A, Brugieres L, Ronsin M et al. P53 germline mutations in childhood cancers and cancer risk for carrier individuals. Br. J. Cancer 2000; 82; 1932-1937.
    • (2000) Br. J. Cancer , vol.82 , pp. 1932-1937
    • Chompret, A.1    Brugieres, L.2    Ronsin, M.3
  • 22
    • 0028953433 scopus 로고
    • Germ-line p53 mutations in 15 families with Li-Fraumeni syndrome
    • Frebourg T, Barbier N, Yan YX et al. Germ-line p53 mutations in 15 families with Li-Fraumeni syndrome. Am. J. Hum. Genet. 1995; 56; 608-615.
    • (1995) Am. J. Hum. Genet. , vol.56 , pp. 608-615
    • Frebourg, T.1    Barbier, N.2    Yan, Y.X.3
  • 23
    • 0345269984 scopus 로고    scopus 로고
    • Germline p53 mutations in a cohort with childhood sarcoma: sex differences in cancer risk
    • Hwang SJ, Lozano G, Amos CI et al. Germline p53 mutations in a cohort with childhood sarcoma: sex differences in cancer risk. Am. J. Hum. Genet. 2003; 72; 975-983.
    • (2003) Am. J. Hum. Genet. , vol.72 , pp. 975-983
    • Hwang, S.J.1    Lozano, G.2    Amos, C.I.3
  • 24
    • 0026530299 scopus 로고
    • Germline mutations of the p53 tumor-suppressor gene in children and young adults with second malignant neoplasms
    • Malkin D, Jolly KW, Barbier N et al. Germline mutations of the p53 tumor-suppressor gene in children and young adults with second malignant neoplasms. N. Engl. J. Med. 1992; 326; 1309-1315.
    • (1992) N. Engl. J. Med. , vol.326 , pp. 1309-1315
    • Malkin, D.1    Jolly, K.W.2    Barbier, N.3
  • 25
    • 0035117108 scopus 로고    scopus 로고
    • Germ-line p53 mutations predispose to a wide spectrum of early-onset cancers
    • Nichols KE, Malkin D, Garber JE et al. Germ-line p53 mutations predispose to a wide spectrum of early-onset cancers. Cancer Epidemiol. Biomark. Prev. 2001; 10; 83-87.
    • (2001) Cancer Epidemiol. Biomark. Prev. , vol.10 , pp. 83-87
    • Nichols, K.E.1    Malkin, D.2    Garber, J.E.3
  • 26
    • 0026578534 scopus 로고
    • The Li-Fraumeni syndrome: from clinical epidemiology to molecular genetics
    • Strong LC, Williams WR, Tainsky MA. The Li-Fraumeni syndrome: from clinical epidemiology to molecular genetics. Am. J. Epidemiol. 1992; 135; 190-199.
    • (1992) Am. J. Epidemiol. , vol.135 , pp. 190-199
    • Strong, L.C.1    Williams, W.R.2    Tainsky, M.A.3
  • 27
    • 0026525839 scopus 로고
    • Prevalence and spectrum of germline mutations of the p53 gene among patients with sarcoma
    • Toguchida J, Yamaguchi T, Dayton SH et al. Prevalence and spectrum of germline mutations of the p53 gene among patients with sarcoma. N. Engl. J. Med. 1992; 326; 1301-1308.
    • (1992) N. Engl. J. Med. , vol.326 , pp. 1301-1308
    • Toguchida, J.1    Yamaguchi, T.2    Dayton, S.H.3
  • 28
    • 0030992886 scopus 로고    scopus 로고
    • Familial aggregation of soft tissue sarcomas: a report of three cases from a Li-Fraumeni-like family
    • Narita T, Dobashi Y, Nakamura T et al. Familial aggregation of soft tissue sarcomas: a report of three cases from a Li-Fraumeni-like family. Arch. Pathol. Lab. Med. 1997; 121; 493-498.
    • (1997) Arch. Pathol. Lab. Med. , vol.121 , pp. 493-498
    • Narita, T.1    Dobashi, Y.2    Nakamura, T.3
  • 29
    • 0022623369 scopus 로고
    • Second primary neoplasms in patients with retinoblastoma
    • Draper GJ, Sanders BM, Kingston JE. Second primary neoplasms in patients with retinoblastoma. Br. J. Cancer 1986; 53; 661-671.
    • (1986) Br. J. Cancer , vol.53 , pp. 661-671
    • Draper, G.J.1    Sanders, B.M.2    Kingston, J.E.3
  • 30
    • 0025222727 scopus 로고
    • Cancer in the families of children with soft tissue sarcoma
    • Birch JM, Hartley AL, Blair V et al. Cancer in the families of children with soft tissue sarcoma. Cancer 1990; 66; 2239-2248.
    • (1990) Cancer , vol.66 , pp. 2239-2248
    • Birch, J.M.1    Hartley, A.L.2    Blair, V.3
  • 31
    • 75649101760 scopus 로고    scopus 로고
    • Clinical and genetic aspects of neurofibromatosis 1
    • Jett K, Friedman JM. Clinical and genetic aspects of neurofibromatosis 1. Genet. Med. 2010; 12; 1-11.
    • (2010) Genet. Med. , vol.12 , pp. 1-11
    • Jett, K.1    Friedman, J.M.2
  • 32
    • 84889885480 scopus 로고    scopus 로고
    • Online Mendelian Inheritance in Man, OMIM. McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University (Baltimore, MD) (9 May 2013). World Wide Web
    • Online Mendelian Inheritance in Man, OMIM. McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University (Baltimore, MD) (9 May 2013). World Wide Web URL: http://omim.org/
  • 33
    • 0142243197 scopus 로고    scopus 로고
    • Familial sarcoma: challenging pedigrees
    • Lynch HT, Deters CA, Hogg D et al. Familial sarcoma: challenging pedigrees. Cancer 2003; 98; 1947-1957.
    • (2003) Cancer , vol.98 , pp. 1947-1957
    • Lynch, H.T.1    Deters, C.A.2    Hogg, D.3
  • 34
    • 0000425196 scopus 로고
    • Pleuropulmonary blastoma: a unique intrathoracic-pulmonary neoplasm of childhood
    • Dehner LP, Watterson J, Priest J. Pleuropulmonary blastoma: a unique intrathoracic-pulmonary neoplasm of childhood. Perspect. Pediatr. Pathol. 1995; 18; 214-226.
    • (1995) Perspect. Pediatr. Pathol. , vol.18 , pp. 214-226
    • Dehner, L.P.1    Watterson, J.2    Priest, J.3
  • 35
    • 0030063355 scopus 로고    scopus 로고
    • Pleuropulmonary blastoma: a marker of familial disease
    • Priest JR, Watterson J, Strong L et al. Pleuropulmonary blastoma: a marker of familial disease. J. Pediatr. 1996; 128; 220-224.
    • (1996) J. Pediatr. , vol.128 , pp. 220-224
    • Priest, J.R.1    Watterson, J.2    Strong, L.3
  • 36
    • 84875209297 scopus 로고    scopus 로고
    • SDHA mutations in adult and pediatric wild-type gastrointestinal stromal tumors
    • Oudjik L, Gaal J, Korpershoek E et al. SDHA mutations in adult and pediatric wild-type gastrointestinal stromal tumors. Mod. Pathol. 2013; 26; 456-463.
    • (2013) Mod. Pathol. , vol.26 , pp. 456-463
    • Oudjik, L.1    Gaal, J.2    Korpershoek, E.3
  • 38
    • 0028793138 scopus 로고
    • Association of childhood rhabdomyosarcoma with neurofibromatosis type 1 and birth defects
    • Yang P, Grufferman S, Khoury MJ et al. Association of childhood rhabdomyosarcoma with neurofibromatosis type 1 and birth defects. Genet. Epidemiol. 1995; 12; 467-474.
    • (1995) Genet. Epidemiol. , vol.12 , pp. 467-474
    • Yang, P.1    Grufferman, S.2    Khoury, M.J.3
  • 40
    • 84889881617 scopus 로고    scopus 로고
    • Embryonal rhabdomyosarcoma
    • In Fletcher CDM, Bridge JA, Hogendoorn PCW, Mertens F eds., 4th edn. Lyon, France: International Agency for Research on Cancer
    • Parham DM, Barr FG. Embryonal rhabdomyosarcoma. In Fletcher CDM, Bridge JA, Hogendoorn PCW, Mertens F eds. WHO classification of tumours of soft tissue and bone, 4th edn. Lyon, France: International Agency for Research on Cancer, 2013; 127-129.
    • (2013) WHO classification of tumours of soft tissue and bone , pp. 127-129
    • Parham, D.M.1    Barr, F.G.2
  • 41
    • 84889881617 scopus 로고    scopus 로고
    • Alveolar rhabdomyosarcoma
    • In Fletcher CDM, Bridge JA, Hogendoorn PCW, Mertens F eds., 4th edn. Lyon, France: International Agency for Research on Cancer
    • Parham DM, Barr FG. Alveolar rhabdomyosarcoma. In Fletcher CDM, Bridge JA, Hogendoorn PCW, Mertens F eds. WHO classification of tumours of soft tissue and bone, 4th edn. Lyon, France: International Agency for Research on Cancer, 2013; 130-132.
    • (2013) WHO classification of tumours of soft tissue and bone , pp. 130-132
    • Parham, D.M.1    Barr, F.G.2
  • 42
    • 84889880454 scopus 로고    scopus 로고
    • Spindle cell/sclerosing rhabdomyosarcoma
    • In Fletcher CDM, Bridge JA, Hogendoorn PCW, Mertens F eds., 4th edn. Lyon, France: International Agency for Research on Cancer
    • Nascimento AF, Barr FG. Spindle cell/sclerosing rhabdomyosarcoma. In Fletcher CDM, Bridge JA, Hogendoorn PCW, Mertens F eds. WHO classification of tumours of soft tissue and bone, 4th edn. Lyon, France: International Agency for Research on Cancer, 2013; 134-135.
    • (2013) WHO classification of tumours of soft tissue and bone , pp. 134-135
    • Nascimento, A.F.1    Barr, F.G.2
  • 43
    • 84889882478 scopus 로고    scopus 로고
    • Pleomorphic rhabdomyosarcoma
    • In Fletcher CDM, Bridge JA, Hogendoorn PCW, Mertens F eds., 4th edn. Lyon, France: International Agency for Research on Cancer
    • Montgomery EA, Barr FG. Pleomorphic rhabdomyosarcoma. In Fletcher CDM, Bridge JA, Hogendoorn PCW, Mertens F eds. WHO classification of tumours of soft tissue and bone, 4th edn. Lyon, France: International Agency for Research on Cancer, 2013; 132-133.
    • (2013) WHO classification of tumours of soft tissue and bone , pp. 132-133
    • Montgomery, E.A.1    Barr, F.G.2
  • 44
    • 77952299529 scopus 로고    scopus 로고
    • Fusion gene-negative alveolar rhabdomyosarcoma is clinically and molecularly indistinguishable from embryonal rhabdomyosarcoma
    • Williamson D, Missiaglia E, de Reynies A et al. Fusion gene-negative alveolar rhabdomyosarcoma is clinically and molecularly indistinguishable from embryonal rhabdomyosarcoma. J. Clin. Oncol. 2010; 28; 2151-2158.
    • (2010) J. Clin. Oncol. , vol.28 , pp. 2151-2158
    • Williamson, D.1    Missiaglia, E.2    de Reynies, A.3
  • 45
    • 33644869652 scopus 로고    scopus 로고
    • Subtype and prognostic classification of rhabdomyosarcoma by immunohistochemistry
    • Wachtel M, Runge T, Leuschner I et al. Subtype and prognostic classification of rhabdomyosarcoma by immunohistochemistry. J. Clin. Oncol. 2006; 24; 816-822.
    • (2006) J. Clin. Oncol. , vol.24 , pp. 816-822
    • Wachtel, M.1    Runge, T.2    Leuschner, I.3
  • 46
    • 66949167418 scopus 로고    scopus 로고
    • Immunohistochemical detection of EGFR, fibrillin-2, P-cadherin and AP2beta as biomarkers for rhabdomyosarcoma diagnostics
    • Grass B, Wachtel M, Behnke S et al. Immunohistochemical detection of EGFR, fibrillin-2, P-cadherin and AP2beta as biomarkers for rhabdomyosarcoma diagnostics. Histopathology 2009; 54; 873-879.
    • (2009) Histopathology , vol.54 , pp. 873-879
    • Grass, B.1    Wachtel, M.2    Behnke, S.3
  • 47
    • 0035166378 scopus 로고    scopus 로고
    • Association of alveolar rhabdomyosarcoma with the Beckwith-Wiedemann syndrome
    • Smith AC, Squire JA, Thorner P et al. Association of alveolar rhabdomyosarcoma with the Beckwith-Wiedemann syndrome. Pediatr. Dev. Pathol. 2001; 4; 550-558.
    • (2001) Pediatr. Dev. Pathol. , vol.4 , pp. 550-558
    • Smith, A.C.1    Squire, J.A.2    Thorner, P.3
  • 49
    • 0037082975 scopus 로고    scopus 로고
    • Five additional Costello syndrome patients with rhabdomyosarcoma: proposal for a tumor screening protocol
    • Gripp KW, Scott CI Jr, Nicholson L et al. Five additional Costello syndrome patients with rhabdomyosarcoma: proposal for a tumor screening protocol. Am. J. Med. Genet. 2002; 108; 80-87.
    • (2002) Am. J. Med. Genet. , vol.108 , pp. 80-87
    • Gripp, K.W.1    Scott Jr, C.I.2    Nicholson, L.3
  • 50
    • 27144531386 scopus 로고    scopus 로고
    • Germline mutations in HRAS protooncogene cause Costello syndrome
    • Aoki Y, Niihori T, Kawame H et al. Germline mutations in HRAS protooncogene cause Costello syndrome. Nat. Genet. 2005; 37; 1038-1040.
    • (2005) Nat. Genet. , vol.37 , pp. 1038-1040
    • Aoki, Y.1    Niihori, T.2    Kawame, H.3
  • 51
    • 33646417908 scopus 로고    scopus 로고
    • Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases
    • Kerr B, Delrue MA, Sigaudy S et al. Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases. J. Med. Genet. 2006; 43; 401-405.
    • (2006) J. Med. Genet. , vol.43 , pp. 401-405
    • Kerr, B.1    Delrue, M.A.2    Sigaudy, S.3
  • 53
    • 80054042241 scopus 로고    scopus 로고
    • Excess of neuromuscular spindles in a fetus with Costello syndrome: a clinicopathological report
    • Sinico M, Bassez G, Touboul C et al. Excess of neuromuscular spindles in a fetus with Costello syndrome: a clinicopathological report. Pediatr. Dev. Pathol. 2011; 14; 218-223.
    • (2011) Pediatr. Dev. Pathol. , vol.14 , pp. 218-223
    • Sinico, M.1    Bassez, G.2    Touboul, C.3
  • 54
    • 0018178510 scopus 로고
    • Rhabdomyosarcoma complicating multiple neurofibromatosis
    • McKeen EA, Bodurtha J, Meadows AT et al. Rhabdomyosarcoma complicating multiple neurofibromatosis. J. Pediatr. 1978; 93; 992-993.
    • (1978) J. Pediatr. , vol.93 , pp. 992-993
    • McKeen, E.A.1    Bodurtha, J.2    Meadows, A.T.3
  • 55
    • 0025091465 scopus 로고
    • The neurofibromatosis type 1 gene encodes a protein related to GAP
    • Xu GF, O'Connell P, Viskochil D et al. The neurofibromatosis type 1 gene encodes a protein related to GAP. Cell 1990; 62; 599-608.
    • (1990) Cell , vol.62 , pp. 599-608
    • Xu, G.F.1    O'Connell, P.2    Viskochil, D.3
  • 56
    • 0027486718 scopus 로고
    • Neurofibromatosis type 1 and childhood cancer
    • Matsui I, Tanimura M, Kobayashi N et al. Neurofibromatosis type 1 and childhood cancer. Cancer 1993; 72; 2746-2754.
    • (1993) Cancer , vol.72 , pp. 2746-2754
    • Matsui, I.1    Tanimura, M.2    Kobayashi, N.3
  • 57
    • 0032914519 scopus 로고    scopus 로고
    • Neurofibromatosis 1 associated with embryonal rhabdomyosarcoma of the urinary bladder
    • Reich S, Overberg-Schmidt US, Leenen A et al. Neurofibromatosis 1 associated with embryonal rhabdomyosarcoma of the urinary bladder. Pediatr. Hematol. Oncol. 1999; 16; 263-266.
    • (1999) Pediatr. Hematol. Oncol. , vol.16 , pp. 263-266
    • Reich, S.1    Overberg-Schmidt, U.S.2    Leenen, A.3
  • 58
    • 3142740145 scopus 로고    scopus 로고
    • Non-neurogenic sarcomas in four children and young adults with neurofibromatosis type 1
    • Coffin CM, Cassity J, Viskochil D et al. Non-neurogenic sarcomas in four children and young adults with neurofibromatosis type 1. Am. J. Med. Genet. 2004; 127A; 40-43.
    • (2004) Am. J. Med. Genet. , vol.127 A , pp. 40-43
    • Coffin, C.M.1    Cassity, J.2    Viskochil, D.3
  • 59
    • 67749129007 scopus 로고    scopus 로고
    • DICER1 mutations in familial pleuropulmonary blastoma
    • Hill DA, Ivanovich J, Priest JR et al. DICER1 mutations in familial pleuropulmonary blastoma. Science 2009; 325; 965.
    • (2009) Science , vol.325 , pp. 965
    • Hill, D.A.1    Ivanovich, J.2    Priest, J.R.3
  • 60
    • 81255136937 scopus 로고    scopus 로고
    • Extending the phenotypes associated with DICER1 mutations
    • Foulkes WD, Bahubeshi A, Hamel N et al. Extending the phenotypes associated with DICER1 mutations. Hum. Mutat. 2011; 32; 1381-1384.
    • (2011) Hum. Mutat. , vol.32 , pp. 1381-1384
    • Foulkes, W.D.1    Bahubeshi, A.2    Hamel, N.3
  • 61
    • 0028958465 scopus 로고
    • Germline p53 mutations are frequently detected in young children with rhabdomyosarcoma
    • Diller L, Sexsmith E, Gottlieb A et al. Germline p53 mutations are frequently detected in young children with rhabdomyosarcoma. J. Clin. Invest. 1995; 95; 1606-1611.
    • (1995) J. Clin. Invest. , vol.95 , pp. 1606-1611
    • Diller, L.1    Sexsmith, E.2    Gottlieb, A.3
  • 62
    • 0030759053 scopus 로고    scopus 로고
    • The epidemiology of soft tissue sarcoma
    • Zahm SH, Fraumeni JF Jr. The epidemiology of soft tissue sarcoma. Semin. Oncol. 1997; 24; 504-514.
    • (1997) Semin. Oncol. , vol.24 , pp. 504-514
    • Zahm, S.H.1    Fraumeni Jr, J.F.2
  • 63
    • 6944253452 scopus 로고    scopus 로고
    • Rhabdomyosarcoma, osteosarcoma, and adrenocortical carcinoma in a child with a germline p53 mutation
    • Khayat CM, Johnston DL. Rhabdomyosarcoma, osteosarcoma, and adrenocortical carcinoma in a child with a germline p53 mutation. Pediatr. Blood Cancer 2004; 43; 683-686.
    • (2004) Pediatr. Blood Cancer , vol.43 , pp. 683-686
    • Khayat, C.M.1    Johnston, D.L.2
  • 64
    • 80054034556 scopus 로고    scopus 로고
    • Rhabdomyosarcoma-associated renal cell carcinoma: a link with constitutional TP53 mutation
    • Curry S, Ibrahim F, Grehan D et al. Rhabdomyosarcoma-associated renal cell carcinoma: a link with constitutional TP53 mutation. Pediatr. Dev. Pathol. 2011; 14; 248-251.
    • (2011) Pediatr. Dev. Pathol. , vol.14 , pp. 248-251
    • Curry, S.1    Ibrahim, F.2    Grehan, D.3
  • 65
    • 84867671998 scopus 로고    scopus 로고
    • Li-Fraumeni syndrome: report of a clinical research workshop and creation of a research consortium
    • Mai PL, Malkin D, Garber JE et al. Li-Fraumeni syndrome: report of a clinical research workshop and creation of a research consortium. Cancer Genet. 2012; 205; 479-487.
    • (2012) Cancer Genet. , vol.205 , pp. 479-487
    • Mai, P.L.1    Malkin, D.2    Garber, J.E.3
  • 66
    • 0028878117 scopus 로고
    • Nevoid basal cell carcinoma syndrome
    • Gorlin RJ. Nevoid basal cell carcinoma syndrome. Dermatol. Clin. 1995; 13; 113-125.
    • (1995) Dermatol. Clin. , vol.13 , pp. 113-125
    • Gorlin, R.J.1
  • 67
    • 15844381336 scopus 로고    scopus 로고
    • Human homolog of patched, a candidate gene for the basal cell nevus syndrome
    • Johnson RL, Rothman AL, Xie J et al. Human homolog of patched, a candidate gene for the basal cell nevus syndrome. Science 1996; 272; 1668-1671.
    • (1996) Science , vol.272 , pp. 1668-1671
    • Johnson, R.L.1    Rothman, A.L.2    Xie, J.3
  • 68
    • 0031837454 scopus 로고    scopus 로고
    • Rhabdomyosarcomas and radiation hypersensitivity in a mouse model of Gorlin syndrome
    • Hahn H, Wojnowski L, Zimmer AM et al. Rhabdomyosarcomas and radiation hypersensitivity in a mouse model of Gorlin syndrome. Nat. Med. 1998; 4; 619-622.
    • (1998) Nat. Med. , vol.4 , pp. 619-622
    • Hahn, H.1    Wojnowski, L.2    Zimmer, A.M.3
  • 69
    • 0026043973 scopus 로고
    • Rhabdomyosarcoma associated with familial adenomatous polyposis
    • Armstrong SJ, Duncan AW, Mott MG. Rhabdomyosarcoma associated with familial adenomatous polyposis. Pediatr. Radiol. 1991; 21; 445-446.
    • (1991) Pediatr. Radiol. , vol.21 , pp. 445-446
    • Armstrong, S.J.1    Duncan, A.W.2    Mott, M.G.3
  • 70
    • 0031795221 scopus 로고    scopus 로고
    • Second primary rhabdomyosarcomas in patients with bilateral retinoblastoma: a clinicopathologic and immunohistochemical study
    • Hasegawa T, Matsuno Y, Niki T et al. Second primary rhabdomyosarcomas in patients with bilateral retinoblastoma: a clinicopathologic and immunohistochemical study. Am. J. Surg. Pathol. 1998; 22; 1351-1360.
    • (1998) Am. J. Surg. Pathol. , vol.22 , pp. 1351-1360
    • Hasegawa, T.1    Matsuno, Y.2    Niki, T.3
  • 71
    • 0019762016 scopus 로고
    • Rubinstein-Taybi syndrome and nasopharyngeal rhabdomyosarcoma
    • Sobel RA, Woerner S. Rubinstein-Taybi syndrome and nasopharyngeal rhabdomyosarcoma. J. Pediatr. 1981; 99; 1000-1001.
    • (1981) J. Pediatr. , vol.99 , pp. 1000-1001
    • Sobel, R.A.1    Woerner, S.2
  • 72
    • 0026602124 scopus 로고
    • Waardenburg's syndrome patients have mutations in the human homologue of the Pax-3 paired box gene
    • Tassabehji M, Read AP, Newton VE et al. Waardenburg's syndrome patients have mutations in the human homologue of the Pax-3 paired box gene. Nature 1992; 355; 635-636.
    • (1992) Nature , vol.355 , pp. 635-636
    • Tassabehji, M.1    Read, A.P.2    Newton, V.E.3
  • 73
    • 0033503449 scopus 로고    scopus 로고
    • Rhabdomyosarcoma in a patient with cardio-facio-cutaneous syndrome
    • Bisogno G, Murgia A, Mammi I et al. Rhabdomyosarcoma in a patient with cardio-facio-cutaneous syndrome. J. Pediatr. Hematol. Oncol. 1999; 21; 424-427.
    • (1999) J. Pediatr. Hematol. Oncol. , vol.21 , pp. 424-427
    • Bisogno, G.1    Murgia, A.2    Mammi, I.3
  • 74
    • 0032952902 scopus 로고    scopus 로고
    • Child with mosaic variegated aneuploidy and embryonal rhabdomyosarcoma
    • Limwongse C, Schwartz S, Bocian M et al. Child with mosaic variegated aneuploidy and embryonal rhabdomyosarcoma. Am. J. Med. Genet. 1999; 82; 20-24.
    • (1999) Am. J. Med. Genet. , vol.82 , pp. 20-24
    • Limwongse, C.1    Schwartz, S.2    Bocian, M.3
  • 75
    • 0034025803 scopus 로고    scopus 로고
    • Primary meningeal rhabdomyosarcoma in a child with hypomelanosis of Ito
    • Xu F, De Las Casas LE, Dobbs LJ Jr. Primary meningeal rhabdomyosarcoma in a child with hypomelanosis of Ito. Arch. Pathol. Lab. Med. 2000; 124; 762-765.
    • (2000) Arch. Pathol. Lab. Med. , vol.124 , pp. 762-765
    • Xu, F.1    De Las Casas, L.E.2    Dobbs Jr, L.J.3
  • 76
    • 5144230063 scopus 로고    scopus 로고
    • Rhabdomyosarcoma in Nijmegen breakage syndrome: strong association with perianal primary site
    • Meyer S, Kingston H, Taylor AM et al. Rhabdomyosarcoma in Nijmegen breakage syndrome: strong association with perianal primary site. Cancer Genet. Cytogenet. 2004; 154; 169-174.
    • (2004) Cancer Genet. Cytogenet. , vol.154 , pp. 169-174
    • Meyer, S.1    Kingston, H.2    Taylor, A.M.3
  • 77
    • 67449139111 scopus 로고    scopus 로고
    • Rhabdomyosarcoma in patients with constitutional mismatch-repair-deficiency syndrome
    • Kratz CP, Holter S, Etzler J, et al. Rhabdomyosarcoma in patients with constitutional mismatch-repair-deficiency syndrome. J. Med. Genet. 2009; 46; 418-420.
    • (2009) J. Med. Genet. , vol.46 , pp. 418-420
    • Kratz, C.P.1    Holter, S.2    Etzler, J.3
  • 78
    • 0023832163 scopus 로고
    • Congenital anomalies associated with rhabdomyosarcoma: an autopsy study of 115 cases. A report from the Intergroup Rhabdomyosarcoma Study Committee (representing the Children's Cancer Study Group, the Pediatric Oncology Group, the United Kingdom Children's Cancer Study Group, and the Pediatric Intergroup Statistical Center)
    • Ruymann FB, Maddux HR, Ragab A et al. Congenital anomalies associated with rhabdomyosarcoma: an autopsy study of 115 cases. A report from the Intergroup Rhabdomyosarcoma Study Committee (representing the Children's Cancer Study Group, the Pediatric Oncology Group, the United Kingdom Children's Cancer Study Group, and the Pediatric Intergroup Statistical Center). Med. Pediatr. Oncol. 1988; 16; 33-39.
    • (1988) Med. Pediatr. Oncol. , vol.16 , pp. 33-39
    • Ruymann, F.B.1    Maddux, H.R.2    Ragab, A.3
  • 79
    • 11144358558 scopus 로고    scopus 로고
    • Soft tissue sarcoma as a second malignant neoplasm in the pediatric age group
    • Bisogno G, Sotti G, Nowicki Y et al. Soft tissue sarcoma as a second malignant neoplasm in the pediatric age group. Cancer 2004; 100; 1758-1765.
    • (2004) Cancer , vol.100 , pp. 1758-1765
    • Bisogno, G.1    Sotti, G.2    Nowicki, Y.3
  • 80
    • 84889885767 scopus 로고    scopus 로고
    • Gardner fibroma
    • In Fletcher CDM, Bridge JA, Hogendoorn PCW, Mertens F eds., 4th edn. Lyon, France: International Agency for Research on Cancer
    • Coffin CM. Gardner fibroma. In Fletcher CDM, Bridge JA, Hogendoorn PCW, Mertens F eds. WHO classification of tumours of soft tissue and bone, 4th edn. Lyon, France: International Agency for Research on Cancer, 2013; 68.
    • (2013) WHO classification of tumours of soft tissue and bone , pp. 68
    • Coffin, C.M.1
  • 81
    • 0035015818 scopus 로고    scopus 로고
    • Gardner-associated fibromas (GAF) in young patients: a distinct fibrous lesion that identifies unsuspected Gardner syndrome and risk for fibromatosis
    • Wehrli BM, Weiss SW, Yandow S et al. Gardner-associated fibromas (GAF) in young patients: a distinct fibrous lesion that identifies unsuspected Gardner syndrome and risk for fibromatosis. Am. J. Surg. Pathol. 2001; 25; 645-651.
    • (2001) Am. J. Surg. Pathol. , vol.25 , pp. 645-651
    • Wehrli, B.M.1    Weiss, S.W.2    Yandow, S.3
  • 82
    • 34247596632 scopus 로고    scopus 로고
    • Gardner fibroma: a clinicopathologic and immunohistochemical analysis of 45 patients with 57 fibromas
    • Coffin CM, Hornick JL, Zhou H et al. Gardner fibroma: a clinicopathologic and immunohistochemical analysis of 45 patients with 57 fibromas. Am. J. Surg. Pathol. 2007; 31; 410-416.
    • (2007) Am. J. Surg. Pathol. , vol.31 , pp. 410-416
    • Coffin, C.M.1    Hornick, J.L.2    Zhou, H.3
  • 83
    • 84881414662 scopus 로고    scopus 로고
    • Desmoid-type fibromatosis
    • In Fletcher CDM, Bridge JA, Hogendoorn PCW, Mertens Feds., 4th edn. Lyon, France: International Agency for Research on Cancer
    • Goldblum JR, Fletcher JA. Desmoid-type fibromatosis. In Fletcher CDM, Bridge JA, Hogendoorn PCW, Mertens Feds. WHO classification of tumours of soft tissue and bone, 4th edn. Lyon, France: International Agency for Research on Cancer, 2013; 72-73.
    • (2013) WHO classification of tumours of soft tissue and bone , pp. 72-73
    • Goldblum, J.R.1    Fletcher, J.A.2
  • 84
    • 78649664497 scopus 로고    scopus 로고
    • Neonatal Gardner fibroma: a sentinel presentation of severe familial adenomatous polyposis
    • Levesque S, Ahmed N, Nguyen VH et al. Neonatal Gardner fibroma: a sentinel presentation of severe familial adenomatous polyposis. Pediatrics 2010; 126; e1599-e1602.
    • (2010) Pediatrics , vol.126
    • Levesque, S.1    Ahmed, N.2    Nguyen, V.H.3
  • 85
    • 7344223250 scopus 로고    scopus 로고
    • Identification and progression of a desmoid precursor lesion in patients with familial adenomatous polyposis
    • Clark SK, Johnson Smith TGP, Katz DE et al. Identification and progression of a desmoid precursor lesion in patients with familial adenomatous polyposis. Br. J. Surg. 1998; 85; 970-973.
    • (1998) Br. J. Surg. , vol.85 , pp. 970-973
    • Clark, S.K.1    Johnson Smith, T.G.P.2    Katz, D.E.3
  • 86
    • 21244477596 scopus 로고    scopus 로고
    • Abdominal desmoid in familial adenomatous polyposis presenting as a pancreatic cystic lesion
    • Pho LN, Coffin CM, Burt RW. Abdominal desmoid in familial adenomatous polyposis presenting as a pancreatic cystic lesion. Fam. Cancer 2005; 4; 135-138.
    • (2005) Fam. Cancer , vol.4 , pp. 135-138
    • Pho, L.N.1    Coffin, C.M.2    Burt, R.W.3
  • 87
    • 78651052934 scopus 로고
    • Multiple cutaneous and subcutaneous lesions occurring simultaneously with hereditary polyposis and osteomatosis
    • Gardner EJ, Richards RC. Multiple cutaneous and subcutaneous lesions occurring simultaneously with hereditary polyposis and osteomatosis. Am. J. Hum. Genet. 1953; 5; 139-147.
    • (1953) Am. J. Hum. Genet. , vol.5 , pp. 139-147
    • Gardner, E.J.1    Richards, R.C.2
  • 88
    • 84858764008 scopus 로고
    • The inheritance of cancer involving different areas of the human gastrointestinal tract
    • Gardner EJ, Woolf CM, Shaffer JO. The inheritance of cancer involving different areas of the human gastrointestinal tract. J. Natl Cancer Inst. 1953; 13; 1089-1093.
    • (1953) J. Natl Cancer Inst. , vol.13 , pp. 1089-1093
    • Gardner, E.J.1    Woolf, C.M.2    Shaffer, J.O.3
  • 89
    • 73849157307 scopus 로고
    • Follow-up study of a family group exhibiting dominant inheritance for a syndrome including intestinal polyps, osteomas, fibromas and epidermal cysts
    • Gardner EJ. Follow-up study of a family group exhibiting dominant inheritance for a syndrome including intestinal polyps, osteomas, fibromas and epidermal cysts. Am. J. Hum. Genet. 1962; 14; 376-390.
    • (1962) Am. J. Hum. Genet. , vol.14 , pp. 376-390
    • Gardner, E.J.1
  • 90
    • 0018567679 scopus 로고
    • Desmoid tumors and mesenteric fibromatosis in Gardner's syndrome: report of kindred 109
    • Naylor EW, Gardner EJ, Richards RC. Desmoid tumors and mesenteric fibromatosis in Gardner's syndrome: report of kindred 109. Arch. Surg. 1979; 114; 1181-1185.
    • (1979) Arch. Surg. , vol.114 , pp. 1181-1185
    • Naylor, E.W.1    Gardner, E.J.2    Richards, R.C.3
  • 91
    • 0031004283 scopus 로고    scopus 로고
    • Aggressive fibromatosis (desmoid tumor) is a monoclonal disorder
    • Alman BA, Pajerski ME, Diaz-Cano S et al. Aggressive fibromatosis (desmoid tumor) is a monoclonal disorder. Diagn. Mol. Pathol. 1997; 6; 98-101.
    • (1997) Diagn. Mol. Pathol. , vol.6 , pp. 98-101
    • Alman, B.A.1    Pajerski, M.E.2    Diaz-Cano, S.3
  • 92
    • 0035770247 scopus 로고    scopus 로고
    • Desmoid tumour in familial adenomatous polyposis: a review of literature
    • Knudsen AL, Bulow S. Desmoid tumour in familial adenomatous polyposis: a review of literature. Fam. Cancer 2001; 1; 111-119.
    • (2001) Fam. Cancer , vol.1 , pp. 111-119
    • Knudsen, A.L.1    Bulow, S.2
  • 93
    • 33744741054 scopus 로고    scopus 로고
    • Desmoid tumors: a characterization of patients seen at Mayo Clinic 1976-1999
    • Fallen T, Wilson M, Morlan B, Lindor NM. Desmoid tumors: a characterization of patients seen at Mayo Clinic 1976-1999. Fam. Cancer 2006; 5; 191-194.
    • (2006) Fam. Cancer , vol.5 , pp. 191-194
    • Fallen, T.1    Wilson, M.2    Morlan, B.3    Lindor, N.M.4
  • 95
    • 33847321099 scopus 로고    scopus 로고
    • Expression of beta-catenin and p53 are prognostic factors in deep aggressive fibromatosis
    • Gebert C, Hardes J, Kersting C et al. Expression of beta-catenin and p53 are prognostic factors in deep aggressive fibromatosis. Histopathology 2007; 50; 491-497.
    • (2007) Histopathology , vol.50 , pp. 491-497
    • Gebert, C.1    Hardes, J.2    Kersting, C.3
  • 97
    • 0022640224 scopus 로고
    • The desmoid syndrome: new aspects in the cause, pathogenesis and treatment of the desmoid tumor
    • Reitamo JJ, Scheinin TM, Hayry P. The desmoid syndrome: new aspects in the cause, pathogenesis and treatment of the desmoid tumor. Am. J. Surg. 1986; 151; 230-237.
    • (1986) Am. J. Surg. , vol.151 , pp. 230-237
    • Reitamo, J.J.1    Scheinin, T.M.2    Hayry, P.3
  • 98
    • 0035917003 scopus 로고    scopus 로고
    • Genotype and phenotype factors as determinants of desmoid tumors in patients with familial adenomatous polyposis
    • Bertario L, Russo A, Sala P et al. Genotype and phenotype factors as determinants of desmoid tumors in patients with familial adenomatous polyposis. Int. J. Cancer 2001; 95; 102-107.
    • (2001) Int. J. Cancer , vol.95 , pp. 102-107
    • Bertario, L.1    Russo, A.2    Sala, P.3
  • 99
    • 33750721304 scopus 로고    scopus 로고
    • The enigma of desmoid tumors
    • Okuno S. The enigma of desmoid tumors. Curr. Treat. Options Oncol. 2006; 7; 438-443.
    • (2006) Curr. Treat. Options Oncol. , vol.7 , pp. 438-443
    • Okuno, S.1
  • 100
    • 12344276979 scopus 로고    scopus 로고
    • Nuclear beta-catenin in mesenchymal tumors
    • Ng TL, Gown AM, Barry TS et al. Nuclear beta-catenin in mesenchymal tumors. Mod. Pathol. 2005; 18; 68-74.
    • (2005) Mod. Pathol. , vol.18 , pp. 68-74
    • Ng, T.L.1    Gown, A.M.2    Barry, T.S.3
  • 101
    • 34548777536 scopus 로고    scopus 로고
    • Immunohistochemistry for beta-catenin in the differential diagnosis of spindle cell lesions: analysis of a series and review of the literature
    • Carlson JW, Fletcher CD. Immunohistochemistry for beta-catenin in the differential diagnosis of spindle cell lesions: analysis of a series and review of the literature. Histopathology 2007; 51; 509-514.
    • (2007) Histopathology , vol.51 , pp. 509-514
    • Carlson, J.W.1    Fletcher, C.D.2
  • 102
    • 0028922626 scopus 로고
    • Chromosome aberrations in desmoid tumors. Trisomy 8 may be a predictor of recurrence
    • Fletcher JA, Naeem R, Xiao S et al. Chromosome aberrations in desmoid tumors. Trisomy 8 may be a predictor of recurrence. Cancer Genet. Cytogenet. 1995; 79; 139-143.
    • (1995) Cancer Genet. Cytogenet. , vol.79 , pp. 139-143
    • Fletcher, J.A.1    Naeem, R.2    Xiao, S.3
  • 103
    • 0032997840 scopus 로고    scopus 로고
    • Trisomies 8 and 20 characterize a subgroup of benign fibrous lesions arising in both soft tissue and bone
    • Bridge JA, Swarts SJ, Buresh C et al. Trisomies 8 and 20 characterize a subgroup of benign fibrous lesions arising in both soft tissue and bone. Am. J. Pathol. 1999; 154; 729-733.
    • (1999) Am. J. Pathol. , vol.154 , pp. 729-733
    • Bridge, J.A.1    Swarts, S.J.2    Buresh, C.3
  • 104
    • 55349092046 scopus 로고    scopus 로고
    • Specific mutations in the beta-catenin gene (CTNNB1) correlate with local recurrence in sporadic desmoid tumors
    • Lazar AJ, Tuvin D, Hajibashi S et al. Specific mutations in the beta-catenin gene (CTNNB1) correlate with local recurrence in sporadic desmoid tumors. Am. J. Pathol. 2008; 173; 1518-1527.
    • (2008) Am. J. Pathol. , vol.173 , pp. 1518-1527
    • Lazar, A.J.1    Tuvin, D.2    Hajibashi, S.3
  • 105
    • 77952051107 scopus 로고    scopus 로고
    • Molecular characterization by array comparative genomic hybridization and DNA sequencing of 194 desmoid tumors
    • Salas S, Chibon F, Noguchi T et al. Molecular characterization by array comparative genomic hybridization and DNA sequencing of 194 desmoid tumors. Genes Chromosom. Cancer 2010; 49; 560-568.
    • (2010) Genes Chromosom. Cancer , vol.49 , pp. 560-568
    • Salas, S.1    Chibon, F.2    Noguchi, T.3
  • 106
    • 0028323465 scopus 로고
    • Desmoid tumours in familial adenomatous polyposis
    • Gurbuz AK, Giardiello FM, Petersen GM et al. Desmoid tumours in familial adenomatous polyposis. Gut 1994; 35; 377-381.
    • (1994) Gut , vol.35 , pp. 377-381
    • Gurbuz, A.K.1    Giardiello, F.M.2    Petersen, G.M.3
  • 107
    • 0032057336 scopus 로고    scopus 로고
    • Editorial: making a difference
    • Coffin CM. Editorial: making a difference. Pediatr. Dev. Pathol. 1998; 1; 177-178.
    • (1998) Pediatr. Dev. Pathol. , vol.1 , pp. 177-178
    • Coffin, C.M.1
  • 108
    • 0030957310 scopus 로고    scopus 로고
    • The diagnostic evaluation and multidisciplinary management of neurofibromatosis 1 and neurofibromatosis 2
    • Gutmann DH, Aylsworth A, Carey JC et al. The diagnostic evaluation and multidisciplinary management of neurofibromatosis 1 and neurofibromatosis 2. JAMA 1997; 278; 51-57.
    • (1997) JAMA , vol.278 , pp. 51-57
    • Gutmann, D.H.1    Aylsworth, A.2    Carey, J.C.3
  • 110
    • 84857919645 scopus 로고    scopus 로고
    • Pathology of peripheral nerve sheath tumors: diagnostic overview and update on selected diagnostic problems
    • Rodriguez FJ, Folpe AL, Giannini C et al. Pathology of peripheral nerve sheath tumors: diagnostic overview and update on selected diagnostic problems. Acta Neuropathol. 2012; 123; 295-319.
    • (2012) Acta Neuropathol. , vol.123 , pp. 295-319
    • Rodriguez, F.J.1    Folpe, A.L.2    Giannini, C.3
  • 111
    • 84887888806 scopus 로고    scopus 로고
    • Neurofibroma (including variants)
    • In Fletcher CDM, Bridge JA, Hogendoorn PCW, Mertens F eds., 4th edn. Lyon, France: International Agency for Research on Cancer
    • Antonescu CR, Brems H, Legius E, Woodruff JM. Neurofibroma (including variants). In Fletcher CDM, Bridge JA, Hogendoorn PCW, Mertens F eds. WHO classification of tumours of soft tissue and bone, 4th edn. Lyon, France: International Agency for Research on Cancer, 2013; 174-176.
    • (2013) WHO classification of tumours of soft tissue and bone , pp. 174-176
    • Antonescu, C.R.1    Brems, H.2    Legius, E.3    Woodruff, J.M.4
  • 112
    • 84889880639 scopus 로고    scopus 로고
    • Malignant peripheral nerve sheath tumor
    • In Fletcher CDM, Bridge JA, Hogendoorn PCW, Mertens F eds., 4th edn. Lyon, France: International Agency for Research on Cancer
    • Nielsen GP, Antonescu CR, Lothe RA. Malignant peripheral nerve sheath tumor. In Fletcher CDM, Bridge JA, Hogendoorn PCW, Mertens F eds. WHO classification of tumours of soft tissue and bone, 4th edn. Lyon, France: International Agency for Research on Cancer, 2013; 187-189.
    • (2013) WHO classification of tumours of soft tissue and bone , pp. 187-189
    • Nielsen, G.P.1    Antonescu, C.R.2    Lothe, R.A.3
  • 113
    • 3042916992 scopus 로고    scopus 로고
    • Neurofibromatosis type 1: genetic and cellular mechanisms of peripheral nerve tumor foundation
    • Rosenbaum T, Patrie K, Ratner N. Neurofibromatosis type 1: genetic and cellular mechanisms of peripheral nerve tumor foundation. Neuroscientist 1997; 3; 412-420.
    • (1997) Neuroscientist , vol.3 , pp. 412-420
    • Rosenbaum, T.1    Patrie, K.2    Ratner, N.3
  • 114
    • 33847316896 scopus 로고    scopus 로고
    • Guidelines for the diagnosis and management of individuals with neurofibromatosis 1
    • Ferner RE, Huson SM, Thomas N et al. Guidelines for the diagnosis and management of individuals with neurofibromatosis 1. J. Med. Genet. 2007; 44; 81-88.
    • (2007) J. Med. Genet. , vol.44 , pp. 81-88
    • Ferner, R.E.1    Huson, S.M.2    Thomas, N.3
  • 115
    • 0019834061 scopus 로고
    • Von Recklinghausen neurofibromatosis
    • Riccardi VM. Von Recklinghausen neurofibromatosis. N. Engl. J. Med. 1981; 305; 1617-1627.
    • (1981) N. Engl. J. Med. , vol.305 , pp. 1617-1627
    • Riccardi, V.M.1
  • 116
    • 79959910771 scopus 로고    scopus 로고
    • Susceptible stages in Schwann cells for NF1-associated plexiform neurofibroma development
    • Le LQ, Liu C, Shipman T et al. Susceptible stages in Schwann cells for NF1-associated plexiform neurofibroma development. Cancer Res. 2011; 71; 4686-4695.
    • (2011) Cancer Res. , vol.71 , pp. 4686-4695
    • Le, L.Q.1    Liu, C.2    Shipman, T.3
  • 117
    • 0018928973 scopus 로고
    • A syndrome of various cutaneous pigmented lesions, myxoid neurofibromata and atrial myxoma: the NAME syndrome
    • Atherton DJ, Pitcher DW, Wells RS et al. A syndrome of various cutaneous pigmented lesions, myxoid neurofibromata and atrial myxoma: the NAME syndrome. Br. J. Dermatol. 1980; 103; 421-429.
    • (1980) Br. J. Dermatol. , vol.103 , pp. 421-429
    • Atherton, D.J.1    Pitcher, D.W.2    Wells, R.S.3
  • 118
    • 0022907905 scopus 로고
    • Neurofibromatosis and associated neuroectodermal tumors: a congenital neurocristopathy
    • Qualman SJ, Green WR, Brovall C et al. Neurofibromatosis and associated neuroectodermal tumors: a congenital neurocristopathy. Pediatr. Pathol. 1986; 5; 65-78.
    • (1986) Pediatr. Pathol. , vol.5 , pp. 65-78
    • Qualman, S.J.1    Green, W.R.2    Brovall, C.3
  • 119
    • 16544377716 scopus 로고    scopus 로고
    • Neurofibromatosis-1 in childhood
    • Listernick R, Charrow J. Neurofibromatosis-1 in childhood. Adv. Dermatol. 2004; 20; 75-115.
    • (2004) Adv. Dermatol. , vol.20 , pp. 75-115
    • Listernick, R.1    Charrow, J.2
  • 120
    • 33847680538 scopus 로고    scopus 로고
    • Neurofibromatosis 1 and neurofibromatosis 2: a twenty-first century perspective
    • Ferner RE. Neurofibromatosis 1 and neurofibromatosis 2: a twenty-first century perspective. Lancet Neurol. 2007; 6; 340-351.
    • (2007) Lancet Neurol. , vol.6 , pp. 340-351
    • Ferner, R.E.1
  • 121
    • 77954072798 scopus 로고    scopus 로고
    • Plexiform neurofibroma genesis: questions of NF1 gene dose and hyperactive mast cells
    • Staser K, Yang FC, Clapp DW. Plexiform neurofibroma genesis: questions of NF1 gene dose and hyperactive mast cells. Curr. Opin. Hematol. 2010; 17; 287-293.
    • (2010) Curr. Opin. Hematol. , vol.17 , pp. 287-293
    • Staser, K.1    Yang, F.C.2    Clapp, D.W.3
  • 123
    • 0000801877 scopus 로고
    • Sarcomas of the peripheral nerves and somatic soft tissues associated with multiple neurofibromatosis (von Recklinghausen's disease)
    • D'Agostino AN, Soule EH, Miller RH. Sarcomas of the peripheral nerves and somatic soft tissues associated with multiple neurofibromatosis (von Recklinghausen's disease). Cancer 1963; 16; 1015-1021.
    • (1963) Cancer , vol.16 , pp. 1015-1021
    • D'Agostino, A.N.1    Soule, E.H.2    Miller, R.H.3
  • 124
    • 0018358449 scopus 로고
    • Malignant schwannoma associated with von Recklinghausen's neurofibromatosis
    • Guccion JG, Enzinger FM. Malignant schwannoma associated with von Recklinghausen's neurofibromatosis. Virchows Arch. A Pathol. Anat. Histol. 1979; 383; 43-57.
    • (1979) Virchows Arch. A Pathol. Anat. Histol. , vol.383 , pp. 43-57
    • Guccion, J.G.1    Enzinger, F.M.2
  • 125
    • 0024918073 scopus 로고
    • Neurofibrosarcoma as a complication of von Recklinghausen neurofibromatosis
    • Riccardi VM, Powell PP. Neurofibrosarcoma as a complication of von Recklinghausen neurofibromatosis. Neurofibromatosis 1989; 2; 152-165.
    • (1989) Neurofibromatosis , vol.2 , pp. 152-165
    • Riccardi, V.M.1    Powell, P.P.2
  • 126
    • 0022634656 scopus 로고
    • Malignant peripheral nerve sheath tumors. A clinicopathologic study of 120 cases
    • Ducatman BS, Scheithauer BW, Piepgras DG et al. Malignant peripheral nerve sheath tumors. A clinicopathologic study of 120 cases. Cancer 1986; 57; 2006-2021.
    • (1986) Cancer , vol.57 , pp. 2006-2021
    • Ducatman, B.S.1    Scheithauer, B.W.2    Piepgras, D.G.3
  • 127
    • 0036096489 scopus 로고    scopus 로고
    • Malignant peripheral nerve sheath tumours in neurofibromatosis 1
    • Evans DGR, Baser ME, McGaughran J et al. Malignant peripheral nerve sheath tumours in neurofibromatosis 1. J. Med. Genet. 2002; 39; 311-314.
    • (2002) J. Med. Genet. , vol.39 , pp. 311-314
    • Evans, D.G.R.1    Baser, M.E.2    McGaughran, J.3
  • 128
    • 0036494640 scopus 로고    scopus 로고
    • International consensus statement on malignant peripheral nerve sheath tumors in neurofibromatosis
    • Ferner RE, Gutmann DH. International consensus statement on malignant peripheral nerve sheath tumors in neurofibromatosis. Cancer Res. 2002; 62; 1573-1577.
    • (2002) Cancer Res. , vol.62 , pp. 1573-1577
    • Ferner, R.E.1    Gutmann, D.H.2
  • 129
    • 34447328730 scopus 로고    scopus 로고
    • Further evidence of the increased risk for malignant peripheral nerve sheath tumour from a Scottish cohort of patients with neurofibromatosis type 1
    • McCaughan JA, Holloway SM, Davidson R et al. Further evidence of the increased risk for malignant peripheral nerve sheath tumour from a Scottish cohort of patients with neurofibromatosis type 1. J. Med. Genet. 2007; 44; 463-466.
    • (2007) J. Med. Genet. , vol.44 , pp. 463-466
    • McCaughan, J.A.1    Holloway, S.M.2    Davidson, R.3
  • 130
    • 22544487213 scopus 로고    scopus 로고
    • Association between benign and malignant peripheral nerve sheath tumors in NF1
    • Tucker T, Wolkenstein P, Revuz J et al. Association between benign and malignant peripheral nerve sheath tumors in NF1. Neurology 2005; 65; 205-211.
    • (2005) Neurology , vol.65 , pp. 205-211
    • Tucker, T.1    Wolkenstein, P.2    Revuz, J.3
  • 131
    • 34748827286 scopus 로고    scopus 로고
    • Value of PET in the assessment of patients with neurofibromatosis type 1
    • Bredella MA, Torriani M, Hornicek F et al. Value of PET in the assessment of patients with neurofibromatosis type 1. Am. J. Roentgenol. 2007; 189; 928-935.
    • (2007) Am. J. Roentgenol. , vol.189 , pp. 928-935
    • Bredella, M.A.1    Torriani, M.2    Hornicek, F.3
  • 133
    • 84862223459 scopus 로고    scopus 로고
    • Malignant peripheral nerve sheath tumors (MPNST): the Mayo Clinic Experience
    • Stucky CC, Johnson KN, Gray RJ et al. Malignant peripheral nerve sheath tumors (MPNST): the Mayo Clinic Experience. Ann. Surg. Oncol. 2011; 19; 878-885.
    • (2011) Ann. Surg. Oncol. , vol.19 , pp. 878-885
    • Stucky, C.C.1    Johnson, K.N.2    Gray, R.J.3
  • 134
    • 0027131703 scopus 로고
    • Glandular peripheral nerve sheath tumors
    • Woodruff JM, Christensen WN. Glandular peripheral nerve sheath tumors. Cancer 1993; 72; 3618-3628.
    • (1993) Cancer , vol.72 , pp. 3618-3628
    • Woodruff, J.M.1    Christensen, W.N.2
  • 135
    • 0035727505 scopus 로고    scopus 로고
    • Diverse differentiation in malignant peripheral nerve sheath tumours associated with neurofibromatosis-1: an immunohistochemical and ultrastructural study
    • Takeuchi A, Ushigome S. Diverse differentiation in malignant peripheral nerve sheath tumours associated with neurofibromatosis-1: an immunohistochemical and ultrastructural study. Histopathology 2001; 39; 298-309.
    • (2001) Histopathology , vol.39 , pp. 298-309
    • Takeuchi, A.1    Ushigome, S.2
  • 136
    • 0035873187 scopus 로고    scopus 로고
    • Predictive value of grade for metastasis development in the main histologic types of adult soft tissue sarcomas: a study of 1240 patients from the French Federation of Cancer Centers Sarcoma Group
    • Coindre JM, Terrier P, Guillou L et al. Predictive value of grade for metastasis development in the main histologic types of adult soft tissue sarcomas: a study of 1240 patients from the French Federation of Cancer Centers Sarcoma Group. Cancer 2001; 91; 1914-1926.
    • (2001) Cancer , vol.91 , pp. 1914-1926
    • Coindre, J.M.1    Terrier, P.2    Guillou, L.3
  • 137
    • 0034892648 scopus 로고    scopus 로고
    • Malignant peripheral nerve sheath tumour arising within neurofibroma. An immunohistochemical analysis in the comparison between benign and malignant components
    • Watanabe T, Oda Y, Tamiya S et al. Malignant peripheral nerve sheath tumour arising within neurofibroma. An immunohistochemical analysis in the comparison between benign and malignant components. J. Clin. Pathol. 2001; 54; 631-636.
    • (2001) J. Clin. Pathol. , vol.54 , pp. 631-636
    • Watanabe, T.1    Oda, Y.2    Tamiya, S.3
  • 138
    • 0032963486 scopus 로고    scopus 로고
    • p53 and Ki-67 proliferating cell nuclear antigen in benign and malignant peripheral nerve sheath tumors in children
    • Liapis H, Marley EF, Lin Y et al. p53 and Ki-67 proliferating cell nuclear antigen in benign and malignant peripheral nerve sheath tumors in children. Pediatr. Dev. Pathol. 1999; 2; 377-384.
    • (1999) Pediatr. Dev. Pathol. , vol.2 , pp. 377-384
    • Liapis, H.1    Marley, E.F.2    Lin, Y.3
  • 139
    • 0141571288 scopus 로고    scopus 로고
    • Malignant peripheral nerve sheath tumor: a comparison of grade, immunophenotype, and cell cycle/growth activation marker expression in sporadic and neurofibromatosis 1-related lesions
    • Zhou H, Coffin CM, Perkins SL et al. Malignant peripheral nerve sheath tumor: a comparison of grade, immunophenotype, and cell cycle/growth activation marker expression in sporadic and neurofibromatosis 1-related lesions. Am. J. Surg. Pathol. 2003; 27; 1337-1345.
    • (2003) Am. J. Surg. Pathol. , vol.27 , pp. 1337-1345
    • Zhou, H.1    Coffin, C.M.2    Perkins, S.L.3
  • 140
    • 0025940594 scopus 로고
    • The neurofibroma in von Recklinghausen neurofibromatosis has a unicellular origin
    • Skuse GR, Kosciolek BA, Rowley PT. The neurofibroma in von Recklinghausen neurofibromatosis has a unicellular origin. Am. J. Hum. Genet. 1991; 49; 600-607.
    • (1991) Am. J. Hum. Genet. , vol.49 , pp. 600-607
    • Skuse, G.R.1    Kosciolek, B.A.2    Rowley, P.T.3
  • 141
    • 0029160585 scopus 로고
    • Benign neurofibromas in type 1 neurofibromatosis (NF1) shows somatic deletions of the NF1 gene
    • Colman SD, Williams CA, Wallace MR. Benign neurofibromas in type 1 neurofibromatosis (NF1) shows somatic deletions of the NF1 gene. Nat. Genet. 1995; 11; 90-92.
    • (1995) Nat. Genet. , vol.11 , pp. 90-92
    • Colman, S.D.1    Williams, C.A.2    Wallace, M.R.3
  • 142
    • 0029745770 scopus 로고    scopus 로고
    • Identification of NF1 mutations in both alleles of a dermal neurofibroma
    • Sawada S, Florell S, Purandare SM et al. Identification of NF1 mutations in both alleles of a dermal neurofibroma. Nat. Genet. 1996; 14; 110-112.
    • (1996) Nat. Genet. , vol.14 , pp. 110-112
    • Sawada, S.1    Florell, S.2    Purandare, S.M.3
  • 143
    • 0030850675 scopus 로고    scopus 로고
    • Confirmation of a double-hit model for the NF1 gene in benign neurofibromas
    • Serra E, Puig S, Otero D et al. Confirmation of a double-hit model for the NF1 gene in benign neurofibromas. Am. J. Hum. Genet. 1997; 61; 512-519.
    • (1997) Am. J. Hum. Genet. , vol.61 , pp. 512-519
    • Serra, E.1    Puig, S.2    Otero, D.3
  • 144
    • 0031813689 scopus 로고    scopus 로고
    • Plexiform neurofibroma with and without associated malignant peripheral nerve sheath tumor: a clinicopathologic and immunohistochemical analysis of 54 cases
    • McCarron KF, Goldblum JR. Plexiform neurofibroma with and without associated malignant peripheral nerve sheath tumor: a clinicopathologic and immunohistochemical analysis of 54 cases. Mod. Pathol. 1998; 11; 612-617.
    • (1998) Mod. Pathol. , vol.11 , pp. 612-617
    • McCarron, K.F.1    Goldblum, J.R.2
  • 145
    • 0343851081 scopus 로고    scopus 로고
    • Cytogenetic characterization of peripheral nerve sheath tumours: a report of the CHAMP study group
    • Mertens F, Dal Cin P, De Wever I et al. Cytogenetic characterization of peripheral nerve sheath tumours: a report of the CHAMP study group. J. Pathol. 2000; 190; 31-38.
    • (2000) J. Pathol. , vol.190 , pp. 31-38
    • Mertens, F.1    Dal Cin, P.2    De Wever, I.3
  • 146
    • 70349307184 scopus 로고    scopus 로고
    • Genome-wide high-resolution analysis of DNA copy number alterations in NF1-associated malignant peripheral nerve sheath tumors using 32K BAC array
    • Mantripragada KK, de Stahl TD, Patridge C et al. Genome-wide high-resolution analysis of DNA copy number alterations in NF1-associated malignant peripheral nerve sheath tumors using 32K BAC array. Genes Chromosom. Cancer 2009; 48; 897-907.
    • (2009) Genes Chromosom. Cancer , vol.48 , pp. 897-907
    • Mantripragada, K.K.1    de Stahl, T.D.2    Patridge, C.3
  • 147
    • 0023668198 scopus 로고
    • Neurofibromatosis and malignant childhood cancers: a survey in Italy, 1970-83
    • Mosso ML, Castello M, Bellani FF et al. Neurofibromatosis and malignant childhood cancers: a survey in Italy, 1970-83. Tumori 1987; 73; 209-212.
    • (1987) Tumori , vol.73 , pp. 209-212
    • Mosso, M.L.1    Castello, M.2    Bellani, F.F.3
  • 148
    • 0022597572 scopus 로고
    • Childhood neurofibromatosis: risk factors for malignant disease
    • Schneider M, Obringer AC, Zackai E et al. Childhood neurofibromatosis: risk factors for malignant disease. Cancer Genet. Cytogenet. 1986; 21; 347-354.
    • (1986) Cancer Genet. Cytogenet. , vol.21 , pp. 347-354
    • Schneider, M.1    Obringer, A.C.2    Zackai, E.3
  • 149
    • 0029082388 scopus 로고
    • Symptomatic tumors affecting the urinary tract in children and neurofibromatosis
    • Barone JG, Massad CA, Parrott TS et al. Symptomatic tumors affecting the urinary tract in children and neurofibromatosis. J. Urol. 1995; 154; 1516-1517.
    • (1995) J. Urol. , vol.154 , pp. 1516-1517
    • Barone, J.G.1    Massad, C.A.2    Parrott, T.S.3
  • 150
  • 151
    • 64549151639 scopus 로고    scopus 로고
    • Germline and somatic NF1 mutations in sporadic and NF1-associated malignant peripheral nerve sheath tumors
    • Bottillo I, Ahiquist T, Brekke H et al. Germline and somatic NF1 mutations in sporadic and NF1-associated malignant peripheral nerve sheath tumors. J. Pathol. 2009; 217; 693-701.
    • (2009) J. Pathol. , vol.217 , pp. 693-701
    • Bottillo, I.1    Ahiquist, T.2    Brekke, H.3
  • 152
    • 38149064478 scopus 로고    scopus 로고
    • Germline and somatic NF1 gene mutation spectrum in NF1-associated malignant peripheral nerve sheath tumors (MPNSTs)
    • Upadhyaya M, Kluwe L, Spurlock G et al. Germline and somatic NF1 gene mutation spectrum in NF1-associated malignant peripheral nerve sheath tumors (MPNSTs). Hum. Mutat. 2008; 29; 74-82.
    • (2008) Hum. Mutat. , vol.29 , pp. 74-82
    • Upadhyaya, M.1    Kluwe, L.2    Spurlock, G.3
  • 153
    • 0026734892 scopus 로고
    • Malignant peripheral nerve sheath tumors (malignant schwannomas) in children
    • Meis JM, Enzinger FM, Martz KL et al. Malignant peripheral nerve sheath tumors (malignant schwannomas) in children. Am. J. Surg. Pathol. 1992; 16; 694-707.
    • (1992) Am. J. Surg. Pathol. , vol.16 , pp. 694-707
    • Meis, J.M.1    Enzinger, F.M.2    Martz, K.L.3
  • 154
    • 33644667931 scopus 로고    scopus 로고
    • Pediatric malignant peripheral nerve sheath tumor: the Italian and German soft tissue sarcoma cooperative group
    • Carli M, Ferrari A, Mattke A et al. Pediatric malignant peripheral nerve sheath tumor: the Italian and German soft tissue sarcoma cooperative group. J. Clin. Oncol. 2005; 23; 8422-8430.
    • (2005) J. Clin. Oncol. , vol.23 , pp. 8422-8430
    • Carli, M.1    Ferrari, A.2    Mattke, A.3
  • 155
    • 0037730135 scopus 로고    scopus 로고
    • Elevated risk for MPNST in NF1 microdeletion patients
    • De Raedt T, Brems H, Wolkenstein P et al. Elevated risk for MPNST in NF1 microdeletion patients. Am. J. Hum. Genet. 2003; 72; 1288-1292.
    • (2003) Am. J. Hum. Genet. , vol.72 , pp. 1288-1292
    • De Raedt, T.1    Brems, H.2    Wolkenstein, P.3
  • 156
    • 59449101518 scopus 로고    scopus 로고
    • Neurofibromatosis type 1 revisited
    • Williams V, Lucas J, Babcock M et al. Neurofibromatosis type 1 revisited. Pediatrics 2009; 123; 124-133.
    • (2009) Pediatrics , vol.123 , pp. 124-133
    • Williams, V.1    Lucas, J.2    Babcock, M.3
  • 157
    • 0029194076 scopus 로고
    • Malignant peripheral nerve sheath tumours
    • Fletcher CD. Malignant peripheral nerve sheath tumours. Curr. Top. Pathol. 1995; 89; 333-354.
    • (1995) Curr. Top. Pathol. , vol.89 , pp. 333-354
    • Fletcher, C.D.1
  • 158
    • 0030693260 scopus 로고    scopus 로고
    • Neurofibroma and cellular neurofibroma with atypia: a report of 14 tumors
    • Lin BT, Weiss LM, Medeiros LJ. Neurofibroma and cellular neurofibroma with atypia: a report of 14 tumors. Am. J. Surg. Pathol. 1997; 21; 1443-1449.
    • (1997) Am. J. Surg. Pathol. , vol.21 , pp. 1443-1449
    • Lin, B.T.1    Weiss, L.M.2    Medeiros, L.J.3
  • 159
    • 20444406794 scopus 로고    scopus 로고
    • Diagnostic criteria for schwannomatosis
    • MacCollin M, Chiocca EA, Evans DG et al. Diagnostic criteria for schwannomatosis. Neurology 2005; 64; 1838-1845.
    • (2005) Neurology , vol.64 , pp. 1838-1845
    • MacCollin, M.1    Chiocca, E.A.2    Evans, D.G.3
  • 160
    • 33645848939 scopus 로고    scopus 로고
    • Increasing the specificity of diagnostic criteria for schwannomatosis
    • Baser ME, Friedman JM, Evans DG. Increasing the specificity of diagnostic criteria for schwannomatosis. Neurology 2006; 66; 730-732.
    • (2006) Neurology , vol.66 , pp. 730-732
    • Baser, M.E.1    Friedman, J.M.2    Evans, D.G.3
  • 161
    • 34147192050 scopus 로고    scopus 로고
    • Germline mutation of INI1/SMARCB1 in familial schwannomatosis
    • Hulsebos TJ, Plomp AS, Wolterman RA et al. Germline mutation of INI1/SMARCB1 in familial schwannomatosis. Am. J. Hum. Genet. 2007; 80; 805-810.
    • (2007) Am. J. Hum. Genet. , vol.80 , pp. 805-810
    • Hulsebos, T.J.1    Plomp, A.S.2    Wolterman, R.A.3
  • 162
    • 84887888806 scopus 로고    scopus 로고
    • Schwannoma (including variants)
    • In Fletcher CDM, Bridge JA, Hogendoorn PCW, Mertens F eds., 4th edn. Lyon, France: International Agency for Research on Cancer
    • Antonescu CR, Perry A, Woodruff JM. Schwannoma (including variants). In Fletcher CDM, Bridge JA, Hogendoorn PCW, Mertens F eds. WHO classification of tumours of soft tissue and bone, 4th edn. Lyon, France: International Agency for Research on Cancer, 2013; 170-173.
    • (2013) WHO classification of tumours of soft tissue and bone , pp. 170-173
    • Antonescu, C.R.1    Perry, A.2    Woodruff, J.M.3
  • 163
    • 0019761388 scopus 로고
    • Central neurofibromatosis with bilateral acoustic neuroma
    • Eldridge R. Central neurofibromatosis with bilateral acoustic neuroma. Adv. Neurol. 1981; 29; 57-65.
    • (1981) Adv. Neurol. , vol.29 , pp. 57-65
    • Eldridge, R.1
  • 164
    • 0018821706 scopus 로고
    • Central neurofibromatosis with bilateral acoustic neuroma: genetic clinical and biochemical distinctions from peripheral neurofibromatosis
    • Kanter WR, Eldridge R, Fabricant R et al. Central neurofibromatosis with bilateral acoustic neuroma: genetic clinical and biochemical distinctions from peripheral neurofibromatosis. Neurology 1980; 30; 851-859.
    • (1980) Neurology , vol.30 , pp. 851-859
    • Kanter, W.R.1    Eldridge, R.2    Fabricant, R.3
  • 165
    • 0019768518 scopus 로고
    • Cellular schwannoma: a variety of schwannoma sometimes mistaken for a malignant tumor
    • Woodruff JM, Godwin TA, Erlandson RA et al. Cellular schwannoma: a variety of schwannoma sometimes mistaken for a malignant tumor. Am. J. Surg. Pathol. 1981; 5; 733-744.
    • (1981) Am. J. Surg. Pathol. , vol.5 , pp. 733-744
    • Woodruff, J.M.1    Godwin, T.A.2    Erlandson, R.A.3
  • 166
    • 0141459652 scopus 로고    scopus 로고
    • Congenital and childhood plexiform (multinodular) cellular schwannoma: a troublesome mimic of malignant peripheral nerve sheath tumor
    • Woodruff JM, Scheithauer BW, Kurtkaya-Yapicier O et al. Congenital and childhood plexiform (multinodular) cellular schwannoma: a troublesome mimic of malignant peripheral nerve sheath tumor. Am. J. Surg. Pathol. 2003; 27; 1321-1329.
    • (2003) Am. J. Surg. Pathol. , vol.27 , pp. 1321-1329
    • Woodruff, J.M.1    Scheithauer, B.W.2    Kurtkaya-Yapicier, O.3
  • 167
    • 34548244687 scopus 로고    scopus 로고
    • The controversial nosology of benign nerve sheath tumors: neurofilament protein staining demonstrates intratumoral axons in many sporadic schwannomas
    • Nascimento AF, Fletcher CD. The controversial nosology of benign nerve sheath tumors: neurofilament protein staining demonstrates intratumoral axons in many sporadic schwannomas. Am. J. Surg. Pathol. 2007; 31; 1363-1370.
    • (2007) Am. J. Surg. Pathol. , vol.31 , pp. 1363-1370
    • Nascimento, A.F.1    Fletcher, C.D.2
  • 168
    • 14644443527 scopus 로고    scopus 로고
    • Sensitive detection of deletions of one or more exons in the neurofibromatosis type 2 (NF2) gene by multiplexed gene dosage polymerase chain reaction
    • Diebold R, Bartelt-Kirbach B, Evans DG et al. Sensitive detection of deletions of one or more exons in the neurofibromatosis type 2 (NF2) gene by multiplexed gene dosage polymerase chain reaction. J. Mol. Diagn. 2005; 7; 97-104.
    • (2005) J. Mol. Diagn. , vol.7 , pp. 97-104
    • Diebold, R.1    Bartelt-Kirbach, B.2    Evans, D.G.3
  • 169
    • 0035069975 scopus 로고    scopus 로고
    • The neurofibromatosis type 2 gene is mutated in perineurial cell tumors: a molecular genetic study of eight cases
    • Lasota J, Fetsch JF, Wozniak A et al. The neurofibromatosis type 2 gene is mutated in perineurial cell tumors: a molecular genetic study of eight cases. Am. J. Pathol. 2001; 158; 1223-1229.
    • (2001) Am. J. Pathol. , vol.158 , pp. 1223-1229
    • Lasota, J.1    Fetsch, J.F.2    Wozniak, A.3
  • 170
    • 33751346371 scopus 로고    scopus 로고
    • Soft tissue perineurioma in a patient with neurofibromatosis type 2: a tumor not previously associated with the NF2 syndrome
    • Pitchford CW, Schwartz HS, Atkinson JB et al. Soft tissue perineurioma in a patient with neurofibromatosis type 2: a tumor not previously associated with the NF2 syndrome. Am. J. Surg. Pathol. 2006; 30; 1624-1629.
    • (2006) Am. J. Surg. Pathol. , vol.30 , pp. 1624-1629
    • Pitchford, C.W.1    Schwartz, H.S.2    Atkinson, J.B.3
  • 171
    • 84859915136 scopus 로고    scopus 로고
    • Hybrid neurofibroma/schwannoma is overrepresented among schwannomatosis and neurofibromatosis patients
    • Harder A, Wesemann M, Hagel C et al. Hybrid neurofibroma/schwannoma is overrepresented among schwannomatosis and neurofibromatosis patients. Am. J. Surg. Pathol. 2012; 36; 702-709.
    • (2012) Am. J. Surg. Pathol. , vol.36 , pp. 702-709
    • Harder, A.1    Wesemann, M.2    Hagel, C.3
  • 172
    • 79551653318 scopus 로고    scopus 로고
    • Germline SMARCB1 mutation and somatic NF2 mutations in familial multiple meningioma
    • Christiaans I, Kanter SB, Brink HC et al. Germline SMARCB1 mutation and somatic NF2 mutations in familial multiple meningioma. J. Med. Genet. 2011; 48; 93-97.
    • (2011) J. Med. Genet. , vol.48 , pp. 93-97
    • Christiaans, I.1    Kanter, S.B.2    Brink, H.C.3
  • 173
    • 51249115377 scopus 로고    scopus 로고
    • Immunohistochemical analysis supports a role for INI1/SMARCB1 in hereditary forms of schwannomas, but not in solitary, sporadic schwannomas
    • Patil S, Perry A, MacCollin M et al. Immunohistochemical analysis supports a role for INI1/SMARCB1 in hereditary forms of schwannomas, but not in solitary, sporadic schwannomas. Brain Pathol. 2008; 18; 517-519.
    • (2008) Brain Pathol. , vol.18 , pp. 517-519
    • Patil, S.1    Perry, A.2    MacCollin, M.3
  • 174
    • 0021349282 scopus 로고
    • Multiple cutaneous neurilemmomas as a skin manifestation of neurilemmomatosis
    • Shishiba T, Niimura M, Ohtsuka F et al. Multiple cutaneous neurilemmomas as a skin manifestation of neurilemmomatosis. J. Am. Acad. Dermatol. 1984; 10; 744-754.
    • (1984) J. Am. Acad. Dermatol. , vol.10 , pp. 744-754
    • Shishiba, T.1    Niimura, M.2    Ohtsuka, F.3
  • 175
    • 84863307128 scopus 로고    scopus 로고
    • SMARCB1 deficiency in tumors from the peripheral nervous system: a link between schwannomas and rhabdoid tumors?
    • Rizzo D, Freneaux P, Brisse H et al. SMARCB1 deficiency in tumors from the peripheral nervous system: a link between schwannomas and rhabdoid tumors? Am. J. Surg. Pathol. 2012; 36; 964-972.
    • (2012) Am. J. Surg. Pathol. , vol.36 , pp. 964-972
    • Rizzo, D.1    Freneaux, P.2    Brisse, H.3
  • 176
    • 84889645489 scopus 로고    scopus 로고
    • Melanotic schwannoma
    • In Fletcher CDM, Bridge JA, Hogendoorn PCW, Mertens F eds., 4th edn. Lyon, France: International Agency for Research on Cancer
    • Antonescu CR, Stratakis CA, Woodruff JM. Melanotic schwannoma. In Fletcher CDM, Bridge JA, Hogendoorn PCW, Mertens F eds. WHO classification of tumours of soft tissue and bone, 4th edn. Lyon, France: International Agency for Research on Cancer, 2013; 173-174.
    • (2013) WHO classification of tumours of soft tissue and bone , pp. 173-174
    • Antonescu, C.R.1    Stratakis, C.A.2    Woodruff, J.M.3
  • 177
    • 0025272856 scopus 로고
    • Psammomatous melanotic schwannoma. A distinctive, heritable tumor with special associations, including cardiac myxoma and the Cushing syndrome
    • Carney JA. Psammomatous melanotic schwannoma. A distinctive, heritable tumor with special associations, including cardiac myxoma and the Cushing syndrome. Am. J. Surg. Pathol. 1990; 14; 206-222.
    • (1990) Am. J. Surg. Pathol. , vol.14 , pp. 206-222
    • Carney, J.A.1
  • 178
    • 0034853288 scopus 로고    scopus 로고
    • Clinical and molecular features of the Carney complex: diagnostic criteria and recommendations for patient evaluation
    • Stratakis CA, Kirschner LS, Carney JA. Clinical and molecular features of the Carney complex: diagnostic criteria and recommendations for patient evaluation. J. Clin. Endocrinol. Metab. 2001; 86; 4041-4046.
    • (2001) J. Clin. Endocrinol. Metab. , vol.86 , pp. 4041-4046
    • Stratakis, C.A.1    Kirschner, L.S.2    Carney, J.A.3
  • 179
    • 0033055970 scopus 로고    scopus 로고
    • Congenital disseminated malignant rhabdoid tumor: a distinct clinicopathologic entity demonstrating abnormalities of chromosome 22q11
    • White FV, Dehner LP, Belchis DA et al. Congenital disseminated malignant rhabdoid tumor: a distinct clinicopathologic entity demonstrating abnormalities of chromosome 22q11. Am. J. Surg. Pathol. 1999; 23; 249-256.
    • (1999) Am. J. Surg. Pathol. , vol.23 , pp. 249-256
    • White, F.V.1    Dehner, L.P.2    Belchis, D.A.3
  • 180
    • 0036163807 scopus 로고    scopus 로고
    • Congenital disseminated malignant rhabdoid tumor and cerebellar tumor mimicking medulloblastoma in monozygotic twins: pathologic and molecular diagnosis
    • Fernandez C, Bouvier C, Sevenet N et al. Congenital disseminated malignant rhabdoid tumor and cerebellar tumor mimicking medulloblastoma in monozygotic twins: pathologic and molecular diagnosis. Am. J. Surg. Pathol. 2002; 26; 266-270.
    • (2002) Am. J. Surg. Pathol. , vol.26 , pp. 266-270
    • Fernandez, C.1    Bouvier, C.2    Sevenet, N.3
  • 181
    • 80053358456 scopus 로고    scopus 로고
    • INI1-deficient tumors: diagnostic features and molecular genetics
    • Hollmann TJ, Hornick JL. INI1-deficient tumors: diagnostic features and molecular genetics. Am. J. Surg. Pathol. 2011; 35; e47-e63.
    • (2011) Am. J. Surg. Pathol. , vol.35
    • Hollmann, T.J.1    Hornick, J.L.2
  • 183
    • 84887822576 scopus 로고    scopus 로고
    • Extrarenal rhabdoid tumor
    • In Fletcher CDM, Bridge JA, Hogendoorn PCW, Mertens F eds., 4th edn. Lyon, France: International Agency for Research on Cancer
    • Oda Y, Biegel JA. Extrarenal rhabdoid tumor. In Fletcher CDM, Bridge JA, Hogendoorn PCW, Mertens F eds. WHO classification of tumours of soft tissue and bone, 4th edn. Lyon, France: International Agency for Research on Cancer, 2013; 228-229.
    • (2013) WHO classification of tumours of soft tissue and bone , pp. 228-229
    • Oda, Y.1    Biegel, J.A.2
  • 184
    • 2642647094 scopus 로고    scopus 로고
    • Truncating mutations of hSNF5/INI1 in aggressive paediatric cancer
    • Versteege I, Sevenet N, Lange J et al. Truncating mutations of hSNF5/INI1 in aggressive paediatric cancer. Nature 1998; 394; 203-206.
    • (1998) Nature , vol.394 , pp. 203-206
    • Versteege, I.1    Sevenet, N.2    Lange, J.3
  • 185
    • 0032940605 scopus 로고    scopus 로고
    • Germ-line and acquired mutations of INI1 in atypical teratoid and rhabdoid tumors
    • Biegel JA, Zhou JY, Rorke LB et al. Germ-line and acquired mutations of INI1 in atypical teratoid and rhabdoid tumors. Cancer Res. 1999; 59; 74-79.
    • (1999) Cancer Res. , vol.59 , pp. 74-79
    • Biegel, J.A.1    Zhou, J.Y.2    Rorke, L.B.3
  • 186
    • 0345581429 scopus 로고    scopus 로고
    • Spectrum of hSNF5/INI1 somatic mutations in human cancer and genotype-phenotype correlations
    • Sevenet N, Lellouch-Tubiana A, Schofield D et al. Spectrum of hSNF5/INI1 somatic mutations in human cancer and genotype-phenotype correlations. Hum. Mol. Genet. 1999; 8; 2359-2368.
    • (1999) Hum. Mol. Genet. , vol.8 , pp. 2359-2368
    • Sevenet, N.1    Lellouch-Tubiana, A.2    Schofield, D.3
  • 187
    • 2042432488 scopus 로고    scopus 로고
    • Constitutional mutations of the hSNF5/INI1 gene predispose to a variety of cancers
    • Sevenet N, Sheridan E, Amram D et al. Constitutional mutations of the hSNF5/INI1 gene predispose to a variety of cancers. Am. J. Hum. Genet. 1999; 65; 1342-1348.
    • (1999) Am. J. Hum. Genet. , vol.65 , pp. 1342-1348
    • Sevenet, N.1    Sheridan, E.2    Amram, D.3
  • 188
    • 0033621864 scopus 로고    scopus 로고
    • Germline INI1 mutation in a patient with a central nervous system atypical teratoid tumor and renal rhabdoid tumor
    • Biegel JA, Fogelgren B, Wainwright LM et al. Germline INI1 mutation in a patient with a central nervous system atypical teratoid tumor and renal rhabdoid tumor. Genes Chromosom. Cancer 2000; 28; 31-37.
    • (2000) Genes Chromosom. Cancer , vol.28 , pp. 31-37
    • Biegel, J.A.1    Fogelgren, B.2    Wainwright, L.M.3
  • 189
    • 0032780802 scopus 로고    scopus 로고
    • Simultaneous presentation of atypical teratoid/rhabdoid tumor in siblings
    • Proust F, Laquerriere A, Constantin B et al. Simultaneous presentation of atypical teratoid/rhabdoid tumor in siblings. J. Neurooncol. 1999; 43; 63-70.
    • (1999) J. Neurooncol. , vol.43 , pp. 63-70
    • Proust, F.1    Laquerriere, A.2    Constantin, B.3
  • 190
    • 0036656127 scopus 로고    scopus 로고
    • Rhabdoid tumor of the kidney is a component of the rhabdoid predisposition syndrome
    • Lee HY, Yoon CS, Sevenet N et al. Rhabdoid tumor of the kidney is a component of the rhabdoid predisposition syndrome. Pediatr. Dev. Pathol. 2002; 5; 395-399.
    • (2002) Pediatr. Dev. Pathol. , vol.5 , pp. 395-399
    • Lee, H.Y.1    Yoon, C.S.2    Sevenet, N.3
  • 191
    • 0038298289 scopus 로고    scopus 로고
    • Molecular analysis of the rhabdoid predisposition syndrome in a child: a novel germline hSNF5/INI1 mutation and absence of c-myc amplification
    • Fujisawa H, Takabatake Y, Fukusato T et al. Molecular analysis of the rhabdoid predisposition syndrome in a child: a novel germline hSNF5/INI1 mutation and absence of c-myc amplification. J. Neurooncol. 2003; 63; 257-262.
    • (2003) J. Neurooncol. , vol.63 , pp. 257-262
    • Fujisawa, H.1    Takabatake, Y.2    Fukusato, T.3
  • 192
    • 33748434623 scopus 로고    scopus 로고
    • Familial posterior fossa brain tumor syndrome of infancy
    • Perry A. Familial posterior fossa brain tumor syndrome of infancy. Adv. Anat. Pathol. 2006; 13; 198-199.
    • (2006) Adv. Anat. Pathol. , vol.13 , pp. 198-199
    • Perry, A.1
  • 193
    • 78751627817 scopus 로고    scopus 로고
    • Frequent hSNF5/INI1 germline mutations in patients with rhabdoid tumor
    • Bourdeaut F, Lequin D, Brugieres L et al. Frequent hSNF5/INI1 germline mutations in patients with rhabdoid tumor. Clin. Cancer Res. 2011; 17; 31-38.
    • (2011) Clin. Cancer Res. , vol.17 , pp. 31-38
    • Bourdeaut, F.1    Lequin, D.2    Brugieres, L.3
  • 194
    • 79953007067 scopus 로고    scopus 로고
    • Case 168: rhabdoid predisposition syndrome - familial cancer syndromes in children
    • Harris TJ, Donahue JE, Shur N et al. Case 168: rhabdoid predisposition syndrome - familial cancer syndromes in children. Radiology 2011; 259; 298-302.
    • (2011) Radiology , vol.259 , pp. 298-302
    • Harris, T.J.1    Donahue, J.E.2    Shur, N.3
  • 195
    • 76049106059 scopus 로고    scopus 로고
    • Germline nonsense mutation and somatic inactivation of SMARCA4/BRG1 in a family with rhabdoid tumor predisposition syndrome
    • Schneppenheim R, Fruhwald MC, Gesk S et al. Germline nonsense mutation
    • (2010) Am. J. Hum. Genet. , vol.86 , pp. 279-284
    • Schneppenheim, R.1    Fruhwald, M.C.2    Gesk, S.3
  • 196
    • 78649675614 scopus 로고    scopus 로고
    • Spectrum of SMARCB1/INI1 mutations in familial and sporadic rhabdoid tumors
    • Eaton KW, Tooke LS, Wainwright LM et al. Spectrum of SMARCB1/INI1 mutations in familial and sporadic rhabdoid tumors. Pediatr. Blood Cancer 2011; 56; 7-15.
    • (2011) Pediatr. Blood Cancer , vol.56 , pp. 7-15
    • Eaton, K.W.1    Tooke, L.S.2    Wainwright, L.M.3
  • 197
    • 0037601842 scopus 로고    scopus 로고
    • Concordant rhabdoid tumor of the kidney in a set of identical twins with discordant outcomes
    • Sahdev I, James-Herry A, Scimeca P et al. Concordant rhabdoid tumor of the kidney in a set of identical twins with discordant outcomes. J. Pediatr. Hematol. Oncol. 2003; 25; 491-494.
    • (2003) J. Pediatr. Hematol. Oncol. , vol.25 , pp. 491-494
    • Sahdev, I.1    James-Herry, A.2    Scimeca, P.3
  • 198
    • 33746642122 scopus 로고    scopus 로고
    • Non-linkage of familial tumors to SMARCB1 implies a second locus for the rhabdoid tumor predisposition syndrome
    • Fruhwald MC, Hasselblatt M, Wirth S et al. Non-linkage of familial tumors to SMARCB1 implies a second locus for the rhabdoid tumor predisposition syndrome. Pediatr. Blood Cancer 2006; 47; 273-278.
    • (2006) Pediatr. Blood Cancer , vol.47 , pp. 273-278
    • Fruhwald, M.C.1    Hasselblatt, M.2    Wirth, S.3
  • 199
    • 84869993131 scopus 로고    scopus 로고
    • Conventional chondrosarcoma in a survivor of rhabdoid tumor: enlarging the spectrum of tumors associated with SMARCB1 germline mutations
    • Forest F, David A, Arrufat S et al. Conventional chondrosarcoma in a survivor of rhabdoid tumor: enlarging the spectrum of tumors associated with SMARCB1 germline mutations. Am. J. Surg. Pathol. 2012; 36; 1892-1896.
    • (2012) Am. J. Surg. Pathol. , vol.36 , pp. 1892-1896
    • Forest, F.1    David, A.2    Arrufat, S.3
  • 200
    • 34547665402 scopus 로고    scopus 로고
    • Atypical teratoid/rhabdoid tumor in a patient with Beckwith-Wiedemann syndrome
    • Jackson EM, Shaikh TH, Zhang F et al. Atypical teratoid/rhabdoid tumor in a patient with Beckwith-Wiedemann syndrome. Am. J. Med. Genet. A 2007; 143; 1767-1770.
    • (2007) Am. J. Med. Genet. A , vol.143 , pp. 1767-1770
    • Jackson, E.M.1    Shaikh, T.H.2    Zhang, F.3
  • 201
    • 34547813165 scopus 로고    scopus 로고
    • High-density single nucleotide polymorphism array analysis in patients with germline deletions of 22q11.2 and malignant rhabdoid tumor
    • Jackson EM, Shaikh TH, Gururangan S et al. High-density single nucleotide polymorphism array analysis in patients with germline deletions of 22q11.2 and malignant rhabdoid tumor. Hum. Genet. 2007; 122; 117-127.
    • (2007) Hum. Genet. , vol.122 , pp. 117-127
    • Jackson, E.M.1    Shaikh, T.H.2    Gururangan, S.3
  • 202
    • 71949127354 scopus 로고    scopus 로고
    • Goldenhar phenotype in a child with distal 22q11.2 deletion and intracranial atypical teratoid rhabdoid tumor
    • Lafay-Cousin L, Payne E, Strother D, Chernos J, Chan M, Bernier FP. Goldenhar phenotype in a child with distal 22q11.2 deletion and intracranial atypical teratoid rhabdoid tumor. Am. J. Med. Genet. A 2009; 149A; 2855-2859.
    • (2009) Am. J. Med. Genet. A , vol.149 A , pp. 2855-2859
    • Lafay-Cousin, L.1    Payne, E.2    Strother, D.3    Chernos, J.4    Chan, M.5    Bernier, F.P.6
  • 203
    • 66849101987 scopus 로고    scopus 로고
    • Array analysis and molecular studies of INI1 in an infant with deletion 22q13 (Phelan-McDermid syndrome) and atypical teratoid/rhabdoid tumor
    • Sathyamoorthi S, Morales J, Bermudez J et al. Array analysis and molecular studies of INI1 in an infant with deletion 22q13 (Phelan-McDermid syndrome) and atypical teratoid/rhabdoid tumor. Am. J. Med. Genet. A 2009; 149A; 1067-1069.
    • (2009) Am. J. Med. Genet. A , vol.149 A , pp. 1067-1069
    • Sathyamoorthi, S.1    Morales, J.2    Bermudez, J.3


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