메뉴 건너뛰기




Volumn 36, Issue 12, 2012, Pages 1892-1896

Conventional chondrosarcoma in a survivor of rhabdoid tumor: Enlarging the spectrum of tumors associated with SMARCB1 germline mutations

Author keywords

chondrosarcoma; pediatric; predisposition; rhabdoid tumor; SMARCB1

Indexed keywords

DNA BINDING PROTEIN; NONHISTONE PROTEIN; SMARCB1 PROTEIN, HUMAN; TRANSCRIPTION FACTOR; TUMOR MARKER;

EID: 84869993131     PISSN: 01475185     EISSN: 15320979     Source Type: Journal    
DOI: 10.1097/PAS.0b013e31826cbe7a     Document Type: Article
Times cited : (25)

References (28)
  • 1
    • 1042290351 scopus 로고    scopus 로고
    • The SWI/SNF complex-chromatin and cancer
    • Roberts CW, Orkin SH. The SWI/SNF complex-chromatin and cancer. Nat Rev Cancer. 2004;4:133-142.
    • (2004) Nat Rev Cancer. , vol.4 , pp. 133-142
    • Roberts, C.W.1    Orkin, S.H.2
  • 2
    • 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
  • 3
    • 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
  • 4
    • 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
  • 5
    • 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
  • 6
    • 0042452295 scopus 로고    scopus 로고
    • Highly penetrant, rapid tumorigenesis through conditional inversion of the tumor suppressor gene Snf5
    • Roberts CW, Leroux MM, Fleming MD, et al. Highly penetrant, rapid tumorigenesis through conditional inversion of the tumor suppressor gene Snf5. Cancer Cell. 2002;2:415-425.
    • (2002) Cancer Cell. , vol.2 , pp. 415-425
    • Roberts, C.W.1    Leroux, M.M.2    Fleming, M.D.3
  • 7
    • 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
  • 8
    • 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
  • 9
    • 75149150033 scopus 로고    scopus 로고
    • Clinical and molecular features in patients with atypical teratoid rhabdoid tumor or malignant rhabdoid tumor
    • Kordes U, Gesk S, Fruhwald MC, et al. Clinical and molecular features in patients with atypical teratoid rhabdoid tumor or malignant rhabdoid tumor. Genes Chromosomes Cancer. 2010;49:176-181.
    • (2010) Genes Chromosomes Cancer. , vol.49 , pp. 176-181
    • Kordes, U.1    Gesk, S.2    Fruhwald, M.C.3
  • 10
    • 52449103743 scopus 로고    scopus 로고
    • Alterations in the SMARCB1 (INI1) tumor suppressor gene in familial schwannomatosis
    • Boyd C, Smith MJ, Kluwe L, et al. Alterations in the SMARCB1 (INI1) tumor suppressor gene in familial schwannomatosis. Clin Genet. 2008;74:358-366.
    • (2008) Clin Genet. , vol.74 , pp. 358-366
    • Boyd, C.1    Smith, M.J.2    Kluwe, L.3
  • 11
    • 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
  • 12
    • 38949137888 scopus 로고    scopus 로고
    • Evidence of a four-hit mechanism involving SMARCB1 and NF2 in schwannomatosis-associated schwannomas
    • Sestini R, Bacci C, Provenzano A, et al. Evidence of a four-hit mechanism involving SMARCB1 and NF2 in schwannomatosis-associated schwannomas. Hum Mutat. 2008;29:227-231.
    • (2008) Hum Mutat. , vol.29 , pp. 227-231
    • Sestini, R.1    Bacci, C.2    Provenzano, A.3
  • 13
    • 79551653318 scopus 로고    scopus 로고
    • Germline SMARCB1 mutation and somatic NF2 mutations in familial multiple menin-giomas
    • Christiaans I, Kenter SB, Brink HC, et al. Germline SMARCB1 mutation and somatic NF2 mutations in familial multiple menin-giomas. J Med Genet. 2011;48:93-97.
    • (2011) J Med Genet. , vol.48 , pp. 93-97
    • Christiaans, I.1    Kenter, S.B.2    Brink, H.C.3
  • 14
    • 20144386270 scopus 로고    scopus 로고
    • SMARCB1/INI1 tumor suppressor gene is frequently inactivated in epithelioid sarcomas
    • Modena P, Lualdi E, Facchinetti F, et al. SMARCB1/INI1 tumor suppressor gene is frequently inactivated in epithelioid sarcomas. Cancer Res. 2005;65:4012-4019.
    • (2005) Cancer Res. , vol.65 , pp. 4012-4019
    • Modena, P.1    Lualdi, E.2    Facchinetti, F.3
  • 15
    • 44349089688 scopus 로고    scopus 로고
    • Renal medullary carcinoma: Rhabdoid features and the absence of INI1 expression as markers of aggressive behavior
    • Cheng JX, Tretiakova M, Gong C, et al. Renal medullary carcinoma: rhabdoid features and the absence of INI1 expression as markers of aggressive behavior. Mod Pathol. 2008;21:647-652.
    • (2008) Mod Pathol. , vol.21 , pp. 647-652
    • Cheng, J.X.1    Tretiakova, M.2    Gong, C.3
  • 16
    • 63849343469 scopus 로고    scopus 로고
    • Loss of INI1 expression is characteristic of both conventional and proximal-type epithelioid sarcoma
    • Hornick JL, Dal Cin P, Fletcher CD. Loss of INI1 expression is characteristic of both conventional and proximal-type epithelioid sarcoma. Am J Surg Pathol. 2009;33:542-550.
    • (2009) Am J Surg Pathol. , vol.33 , pp. 542-550
    • Hornick, J.L.1    Dal Cin, P.2    Fletcher, C.D.3
  • 17
    • 78651075522 scopus 로고    scopus 로고
    • Loss of SMARCB1/INI1 expression in poorly differentiated chordomas
    • Mobley BC, McKenney JK, Bangs CD, et al. Loss of SMARCB1/INI1 expression in poorly differentiated chordomas. Acta Neuro-pathol. 2010;120:745-753.
    • (2010) Acta Neuro-pathol. , vol.120 , pp. 745-753
    • Mobley, B.C.1    McKenney, J.K.2    Bangs, C.D.3
  • 18
    • 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
  • 19
    • 36448948714 scopus 로고    scopus 로고
    • Myoepithelial carcinoma of soft tissue in children: An aggressive neoplasm analyzed in a series of 29 cases
    • Gleason BC, Fletcher CD. Myoepithelial carcinoma of soft tissue in children: an aggressive neoplasm analyzed in a series of 29 cases. Am J Surg Pathol. 2007;31:1813-1824.
    • (2007) Am J Surg Pathol. , vol.31 , pp. 1813-1824
    • Gleason, B.C.1    Fletcher, C.D.2
  • 20
    • 49249109215 scopus 로고    scopus 로고
    • SMARCB1/INI1 protein expression in round cell soft tissue sarcomas associated with chromosomal translocations involving EWS: A special reference to SMARCB1/INI1 negative variant extraskeletal myxoid chondro-sarcoma
    • Kohashi K, Oda Y, Yamamoto H, et al. SMARCB1/INI1 protein expression in round cell soft tissue sarcomas associated with chromosomal translocations involving EWS: a special reference to SMARCB1/INI1 negative variant extraskeletal myxoid chondro-sarcoma. Am J Surg Pathol. 2008;32:1168-1174.
    • (2008) Am J Surg Pathol. , vol.32 , pp. 1168-1174
    • Kohashi, K.1    Oda, Y.2    Yamamoto, H.3
  • 21
    • 33846641244 scopus 로고    scopus 로고
    • HSNF5/INI1-deficient tumors and rhabdoid tumors are convergent but not fully overlapping entities
    • Bourdeaut F, Freneaux P, Thuille B, et al. hSNF5/INI1-deficient tumors and rhabdoid tumors are convergent but not fully overlapping entities. J Pathol. 2007;211:323-330.
    • (2007) J Pathol. , vol.211 , pp. 323-330
    • Bourdeaut, F.1    Freneaux, P.2    Thuille, B.3
  • 22
    • 58549117718 scopus 로고    scopus 로고
    • Familial occurrence of schwannomas and malignant rhabdoid tumor associated with a duplication in SMARCB1
    • Swensen JJ, Keyser J, Coffin CM, et al. Familial occurrence of schwannomas and malignant rhabdoid tumor associated with a duplication in SMARCB1. J Med Genet. 2009;46:68-72.
    • (2009) J Med Genet. , vol.46 , pp. 68-72
    • Swensen, J.J.1    Keyser, J.2    Coffin, C.M.3
  • 23
    • 84862811132 scopus 로고    scopus 로고
    • Frequency of SMARCB1 mutations in familial and sporadic schwannomatosis
    • Smith MJ, Wallace AJ, Bowers NL, et al. Frequency of SMARCB1 mutations in familial and sporadic schwannomatosis. Neurogenetics. 2012;13:141-145.
    • (2012) Neurogenetics. , vol.13 , pp. 141-145
    • Smith, M.J.1    Wallace, A.J.2    Bowers, N.L.3
  • 24
    • 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
  • 25
    • 44649171111 scopus 로고    scopus 로고
    • Secondary meningi-oma in a long-term survivor of atypical teratoid/rhabdoid tumor with a germline INI1 mutation
    • Ammerlaan AC, Houben MP, Tijssen CC, et al. Secondary meningi-oma in a long-term survivor of atypical teratoid/rhabdoid tumor with a germline INI1 mutation. Childs Nerv Syst. 2008;24:855-857.
    • (2008) Childs Nerv Syst. , vol.24 , pp. 855-857
    • Ammerlaan, A.C.1    Houben, M.P.2    Tijssen, C.C.3
  • 26
    • 71749111001 scopus 로고    scopus 로고
    • Multiple osteochondromas: Mutation update and description of the multiple osteochondromas mutation database (MOdb)
    • Jennes I, Pedrini E, Zuntini M, et al. Multiple osteochondromas: mutation update and description of the multiple osteochondromas mutation database (MOdb). Hum Mutat. 2009;30:1620-1627.
    • (2009) Hum Mutat. , vol.30 , pp. 1620-1627
    • Jennes, I.1    Pedrini, E.2    Zuntini, M.3
  • 27
    • 82255183051 scopus 로고    scopus 로고
    • Ollier disease and Maffucci syndrome are caused by somatic mosaic mutations of IDH1 and IDH2
    • Amary MF, Damato S, Halai D, et al. Ollier disease and Maffucci syndrome are caused by somatic mosaic mutations of IDH1 and IDH2. Nat Genet. 2011;43:1262-1265.
    • (2011) Nat Genet. , vol.43 , pp. 1262-1265
    • Amary, M.F.1    Damato, S.2    Halai, D.3
  • 28
    • 82255183048 scopus 로고    scopus 로고
    • Somatic mosaic IDH1 and IDH2 mutations are associated with enchondroma and spindle cell hemangioma in Ollier disease and Maffucci syndrome
    • Pansuriya TC, van Eijk R, d'Adamo P, et al. Somatic mosaic IDH1 and IDH2 mutations are associated with enchondroma and spindle cell hemangioma in Ollier disease and Maffucci syndrome. Nat Genet. 2011;43:1256-1261.
    • (2011) Nat Genet. , vol.43 , pp. 1256-1261
    • Pansuriya, T.C.1    Van Eijk, R.2    D'Adamo, P.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.