메뉴 건너뛰기




Volumn 23, Issue 12, 2005, Pages 2735-2743

Familial gastrointestinal stromal tumor syndrome: Phenotypic and molecular features in a kindred

Author keywords

[No Author keywords available]

Indexed keywords

ACTIN; DESMIN; MITOGEN ACTIVATED PROTEIN KINASE; PROTEIN KINASE B; PROTEIN S 100; STEM CELL FACTOR RECEPTOR;

EID: 21044439344     PISSN: 0732183X     EISSN: None     Source Type: Journal    
DOI: 10.1200/JCO.2005.06.009     Document Type: Article
Times cited : (145)

References (45)
  • 1
    • 0035174752 scopus 로고    scopus 로고
    • Familial gastrointestinal stromal tumor with hyperpigmentation: Association with a germline mutation of the c-kit gene
    • Maeyama H, Hidaka E, Ota H, et al: Familial gastrointestinal stromal tumor with hyperpigmentation: Association with a germline mutation of the c-kit gene. Gastroenterology 120:210-215, 2001
    • (2001) Gastroenterology , vol.120 , pp. 210-215
    • Maeyama, H.1    Hidaka, E.2    Ota, H.3
  • 2
    • 0036305274 scopus 로고    scopus 로고
    • Clinical management of gastrointestinal stromal tumors: Before and after STI-571
    • Dematteo RP, Heinrich MC, El-Rifai WM, et al: Clinical management of gastrointestinal stromal tumors: Before and after STI-571. Hum Pathol 33:466-477, 2002
    • (2002) Hum Pathol , vol.33 , pp. 466-477
    • Dematteo, R.P.1    Heinrich, M.C.2    El-Rifai, W.M.3
  • 3
    • 0032884854 scopus 로고    scopus 로고
    • Gastrointestinal stromal tumors: Recent advances in understanding of their biology
    • Miettinen M, Sarlomo-Rikala M, Lasota J: Gastrointestinal stromal tumors: Recent advances in understanding of their biology. Hum Pathol 30:1213-1220, 1999
    • (1999) Hum Pathol , vol.30 , pp. 1213-1220
    • Miettinen, M.1    Sarlomo-Rikala, M.2    Lasota, J.3
  • 4
    • 12144286747 scopus 로고    scopus 로고
    • Pleomorphic characteristics of a germ-line KIT mutation in a large kindred with gastrointestinal stromal tumors, hyperpigmentation, and dysphagia
    • Robson ME, Glogowski E, Sommer G, et al: Pleomorphic characteristics of a germ-line KIT mutation in a large kindred with gastrointestinal stromal tumors, hyperpigmentation, and dysphagia. Clin Cancer Res 10:1250-1254, 2004
    • (2004) Clin Cancer Res , vol.10 , pp. 1250-1254
    • Robson, M.E.1    Glogowski, E.2    Sommer, G.3
  • 5
    • 0035810148 scopus 로고    scopus 로고
    • Effect of the tyrosine kinase inhibitor STI571 in a patient with a metastatic gastrointestinal stromal tumor
    • Joensuu H, Roberts PJ, Sarlomo-Rikala M, et al: Effect of the tyrosine kinase inhibitor STI571 in a patient with a metastatic gastrointestinal stromal tumor. N Engl J Med 344:1052-1056, 2001
    • (2001) N Engl J Med , vol.344 , pp. 1052-1056
    • Joensuu, H.1    Roberts, P.J.2    Sarlomo-Rikala, M.3
  • 6
    • 0037103424 scopus 로고    scopus 로고
    • Efficacy and safety of imatinib mesylate in advanced gastrointestinal stromal tumors
    • Demetri GD, von Mehren M, Blanke CD, et al: Efficacy and safety of imatinib mesylate in advanced gastrointestinal stromal tumors. N Engl J Med 347:472-480, 2002
    • (2002) N Engl J Med , vol.347 , pp. 472-480
    • Demetri, G.D.1    von Mehren, M.2    Blanke, C.D.3
  • 7
    • 0035890740 scopus 로고    scopus 로고
    • KIT activation is a ubiquitous feature of gastrointestinal stromal tumors
    • Rubin BP, Singer S, Tsao C, et al: KIT activation is a ubiquitous feature of gastrointestinal stromal tumors. Cancer Res 61:8118-8121, 2001
    • (2001) Cancer Res , vol.61 , pp. 8118-8121
    • Rubin, B.P.1    Singer, S.2    Tsao, C.3
  • 8
    • 0025364011 scopus 로고
    • Achalasia due to diffuse esophageal leiomyomatosis and inherited as an autosomal dominant disorder: Report of a family study
    • Marshall JB, Diaz-Arias AA, Bochna GS, et al: Achalasia due to diffuse esophageal leiomyomatosis and inherited as an autosomal dominant disorder: Report of a family study. Gastroenterology 98:1358-1365, 1990
    • (1990) Gastroenterology , vol.98 , pp. 1358-1365
    • Marshall, J.B.1    Diaz-Arias, A.A.2    Bochna, G.S.3
  • 9
    • 0036240932 scopus 로고    scopus 로고
    • Familial gastrointestinal stromal tumors associated with dysphagia and novel type germline mutation of KIT gene
    • Hirota S, Nishida T, Isozaki K, et al: Familial gastrointestinal stromal tumors associated with dysphagia and novel type germline mutation of KIT gene. Gastroenterology 122:1493-1499, 2002
    • (2002) Gastroenterology , vol.122 , pp. 1493-1499
    • Hirota, S.1    Nishida, T.2    Isozaki, K.3
  • 10
    • 0031848146 scopus 로고    scopus 로고
    • Familial gastrointestinal stromal tumours with germline mutation of the KIT gene
    • Nishida T, Hirota S, Taniguchi M, et al: Familial gastrointestinal stromal tumours with germline mutation of the KIT gene. Nat Genet 19:323-324, 1998
    • (1998) Nat Genet , vol.19 , pp. 323-324
    • Nishida, T.1    Hirota, S.2    Taniguchi, M.3
  • 11
    • 0035425217 scopus 로고    scopus 로고
    • Germline mutation in the juxtamembrane domain of the kit gene in a family with gastrointestinal stromal tumors and urticaria pigmentosa
    • Beghini A, Tibiletti MG, Roversi G, et al: Germline mutation in the juxtamembrane domain of the kit gene in a family with gastrointestinal stromal tumors and urticaria pigmentosa. Cancer 92:657-662, 2001
    • (2001) Cancer , vol.92 , pp. 657-662
    • Beghini, A.1    Tibiletti, M.G.2    Roversi, G.3
  • 12
    • 0031902240 scopus 로고    scopus 로고
    • A novel KIT gene missense mutation in a Japanese family with piebaldism
    • Nomura K, Hatayama I, Narita T, et al: A novel KIT gene missense mutation in a Japanese family with piebaldism. J Invest Dermatol 111: 337-338, 1998
    • (1998) J Invest Dermatol , vol.111 , pp. 337-338
    • Nomura, K.1    Hatayama, I.2    Narita, T.3
  • 13
    • 0033199890 scopus 로고    scopus 로고
    • Effect of c-kit mutation on prognosis of gastrointestinal stromal tumors
    • Taniguchi M, Nishida T, Hirota S, et al: Effect of c-kit mutation on prognosis of gastrointestinal stromal tumors. Cancer Res 59:4297-4300, 1999
    • (1999) Cancer Res , vol.59 , pp. 4297-4300
    • Taniguchi, M.1    Nishida, T.2    Hirota, S.3
  • 14
    • 15644363454 scopus 로고    scopus 로고
    • Gain-of-function mutations of c-kit in human gastrointestinal stromal tumors
    • Hirota S, Isozaki K, Moriyama Y, et al: Gain-of-function mutations of c-kit in human gastrointestinal stromal tumors. Science 279:577-580, 1998
    • (1998) Science , vol.279 , pp. 577-580
    • Hirota, S.1    Isozaki, K.2    Moriyama, Y.3
  • 15
    • 0032408616 scopus 로고    scopus 로고
    • KIT mutation portends poor prognosis in gastrointestinal stromal/smooth muscle tumors
    • Ernst SI, Hubbs AE, Przygodzki RM, et al: KIT mutation portends poor prognosis in gastrointestinal stromal/smooth muscle tumors. Lab Invest 78:1633-1636, 1998
    • (1998) Lab Invest , vol.78 , pp. 1633-1636
    • Ernst, S.I.1    Hubbs, A.E.2    Przygodzki, R.M.3
  • 16
    • 0032953812 scopus 로고    scopus 로고
    • Mutations in exon 11 of c-Kit occur preferentially in malignant versus benign gastrointestinal stromal tumors and do not occur in leiomyomas or leiomyosarcomas
    • Lasota J, Jasinski M, Sarlomo-Rikala M, et al: Mutations in exon 11 of c-Kit occur preferentially in malignant versus benign gastrointestinal stromal tumors and do not occur in leiomyomas or leiomyosarcomas. Am J Pathol 154:53-60, 1999
    • (1999) Am J Pathol , vol.154 , pp. 53-60
    • Lasota, J.1    Jasinski, M.2    Sarlomo-Rikala, M.3
  • 17
    • 0033883060 scopus 로고    scopus 로고
    • KIT extracellular and kinase domain mutations in gastrointestinal stromal tumors
    • Lux ML, Rubin BP, Biase TL, et al: KIT extracellular and kinase domain mutations in gastrointestinal stromal tumors. Am J Pathol 156:791-795, 2000
    • (2000) Am J Pathol , vol.156 , pp. 791-795
    • Lux, M.L.1    Rubin, B.P.2    Biase, T.L.3
  • 18
    • 0031791026 scopus 로고    scopus 로고
    • A novel gain-of-function mutation of c-kit gene in gastrointestinal stromal tumors
    • Nakahara M, Isozaki K, Hirota S, et al: A novel gain-of-function mutation of c-kit gene in gastrointestinal stromal tumors. Gastroenterology 115:1090-1095, 1998
    • (1998) Gastroenterology , vol.115 , pp. 1090-1095
    • Nakahara, M.1    Isozaki, K.2    Hirota, S.3
  • 19
    • 0242670019 scopus 로고    scopus 로고
    • PDGFRA activating mutations in gastrointestinal stromal tumors
    • Heinrich MC, Corless CL, Duensing A, et al: PDGFRA activating mutations in gastrointestinal stromal tumors. Science 299:708-710, 2003
    • (2003) Science , vol.299 , pp. 708-710
    • Heinrich, M.C.1    Corless, C.L.2    Duensing, A.3
  • 20
    • 0020514752 scopus 로고
    • Gastric stromal tumors: Reappraisal of histogenesis
    • Mazur MT, Clark HB: Gastric stromal tumors: Reappraisal of histogenesis. Am J Surg Pathol 7:507-519, 1983
    • (1983) Am J Surg Pathol , vol.7 , pp. 507-519
    • Mazur, M.T.1    Clark, H.B.2
  • 21
    • 0035142836 scopus 로고    scopus 로고
    • Gastrointestinal stromal tumors: Definition, clinical, histological, immunohistochemical, and molecular genetic features and differential diagnosis
    • Miettinen M, Lasota J: Gastrointestinal stromal tumors: Definition, clinical, histological, immunohistochemical, and molecular genetic features and differential diagnosis. Virchows Arch 438:1-12, 2001
    • (2001) Virchows Arch , vol.438 , pp. 1-12
    • Miettinen, M.1    Lasota, J.2
  • 22
    • 0035258607 scopus 로고    scopus 로고
    • Gastrointestinal stromal tumors: Analysis of clinical and pathologic factors
    • Kim CJ, Day S, Yeh KA: Gastrointestinal stromal tumors: Analysis of clinical and pathologic factors. Am Surg 67:135-137, 2001
    • (2001) Am Surg , vol.67 , pp. 135-137
    • Kim, C.J.1    Day, S.2    Yeh, K.A.3
  • 23
    • 0035085055 scopus 로고    scopus 로고
    • Gastrointestinal stromal tumors: Their origin and cause
    • Hirota S: Gastrointestinal stromal tumors: Their origin and cause. Int J Clin Oncol 6:1-5, 2001
    • (2001) Int J Clin Oncol , vol.6 , pp. 1-5
    • Hirota, S.1
  • 24
    • 0025116799 scopus 로고
    • Mesenchymal tumors of the gut: Historical perspectives, new approaches, new results, and does it make any difference?
    • Appelman HD: Mesenchymal tumors of the gut: Historical perspectives, new approaches, new results, and does it make any difference? Monogr Pathol 31:220-246, 1990
    • (1990) Monogr Pathol , vol.31 , pp. 220-246
    • Appelman, H.D.1
  • 25
    • 0026078666 scopus 로고
    • Diagnostic relevance of clonal cytogenetic aberrations in malignant soft-tissue tumors
    • Fletcher JA, Kozakewich HP, Hoffer FA, et al: Diagnostic relevance of clonal cytogenetic aberrations in malignant soft-tissue tumors. N Engl J Med 324:436-442, 1991
    • (1991) N Engl J Med , vol.324 , pp. 436-442
    • Fletcher, J.A.1    Kozakewich, H.P.2    Hoffer, F.A.3
  • 26
    • 0036092268 scopus 로고    scopus 로고
    • KIT mutations are common in incidental gastrointestinal stromal tumors one centimeter or less in size
    • Corless CL, McGreevey L, Haley A, et al: KIT mutations are common in incidental gastrointestinal stromal tumors one centimeter or less in size. Am J Pathol 160:1567-1572, 2002
    • (2002) Am J Pathol , vol.160 , pp. 1567-1572
    • Corless, C.L.1    McGreevey, L.2    Haley, A.3
  • 27
    • 0037070754 scopus 로고    scopus 로고
    • Molecular characterisation of soft tissue tumours: A gene expression study
    • Nielsen TO, West RB, Linn SC, et al: Molecular characterisation of soft tissue tumours: A gene expression study. Lancet 359: 1301-1307, 2002
    • (2002) Lancet , vol.359 , pp. 1301-1307
    • Nielsen, T.O.1    West, R.B.2    Linn, S.C.3
  • 28
    • 2542520755 scopus 로고    scopus 로고
    • Mechanisms of oncogenic KIT signal transduction in primary gastrointestinal stromal tumors (GISTs)
    • Duensing A, Medeiros F, McConarty B, et al: Mechanisms of oncogenic KIT signal transduction in primary gastrointestinal stromal tumors (GISTs). Oncogene 23:3999-4006, 2004
    • (2004) Oncogene , vol.23 , pp. 3999-4006
    • Duensing, A.1    Medeiros, F.2    McConarty, B.3
  • 29
    • 10744220575 scopus 로고    scopus 로고
    • Gene expression patterns and gene copy number changes in dermatofibrosarcoma protuberans
    • Linn SC, West RB, Pollack JR, et al: Gene expression patterns and gene copy number changes in dermatofibrosarcoma protuberans. Am J Pathol 163:2383-2395, 2003
    • (2003) Am J Pathol , vol.163 , pp. 2383-2395
    • Linn, S.C.1    West, R.B.2    Pollack, J.R.3
  • 30
    • 3042594995 scopus 로고    scopus 로고
    • The novel marker, DOG1, is expressed ubiquitously in G1 stromal tumors irrespective of KIT or PDGFRA mutation status
    • West RB, Corless CL, Rubin BP, et al: The novel marker, DOG1, is expressed ubiquitously in G1 stromal tumors irrespective of KIT or PDGFRA mutation status. Am J Pathol 165:107-113, 2004
    • (2004) Am J Pathol , vol.165 , pp. 107-113
    • West, R.B.1    Corless, C.L.2    Rubin, B.P.3
  • 31
    • 0035211136 scopus 로고    scopus 로고
    • Targeting c-kit mutations in solid tumors: Scientific rationale and novel therapeutic options
    • Demetri GD: Targeting c-kit mutations in solid tumors: Scientific rationale and novel therapeutic options. Semin Oncol 28:19-26, 2001
    • (2001) Semin Oncol , vol.28 , pp. 19-26
    • Demetri, G.D.1
  • 32
    • 0036301722 scopus 로고    scopus 로고
    • Diagnosis of gastrointestinal stromal tumors: A consensus approach
    • Fletcher CD, Berman JJ, Corless C, et al: Diagnosis of gastrointestinal stromal tumors: A consensus approach. Hum Pathol 33:459-465, 2002
    • (2002) Hum Pathol , vol.33 , pp. 459-465
    • Fletcher, C.D.1    Berman, J.J.2    Corless, C.3
  • 33
    • 0033678402 scopus 로고    scopus 로고
    • Germline-activating mutation in the kinase domain of KIT gene in familial gastrointestinal stromal tumors
    • Isozaki K, Terris B, Belghiti J, et al: Germline-activating mutation in the kinase domain of KIT gene in familial gastrointestinal stromal tumors. Am J Pathol 157:1581-1585, 2000
    • (2000) Am J Pathol , vol.157 , pp. 1581-1585
    • Isozaki, K.1    Terris, B.2    Belghiti, J.3
  • 34
    • 0033013296 scopus 로고    scopus 로고
    • Multiple familial gastrointestinal autonomic nerve tumors and small intestinal neuronal dysplasia
    • O'Brien P, Kapusta L, Dardick I, et al: Multiple familial gastrointestinal autonomic nerve tumors and small intestinal neuronal dysplasia. Am J Surg Pathol 23:198-204, 1999
    • (1999) Am J Surg Pathol , vol.23 , pp. 198-204
    • O'Brien, P.1    Kapusta, L.2    Dardick, I.3
  • 35
    • 0036895022 scopus 로고    scopus 로고
    • Polyclonal nature of diffuse proliferation of interstitial cells of Cajal in patients with familial and multiple gastrointestinal stromal tumours
    • Chen H, Hirota S, Isozaki K, et al: Polyclonal nature of diffuse proliferation of interstitial cells of Cajal in patients with familial and multiple gastrointestinal stromal tumours. Gut 51:793-796, 2002
    • (2002) Gut , vol.51 , pp. 793-796
    • Chen, H.1    Hirota, S.2    Isozaki, K.3
  • 36
    • 0033971263 scopus 로고    scopus 로고
    • Cause of familial and multiple gastrointestinal autonomic nerve tumors with hyperplasia of interstitial cells of Cajal is germline mutation of the c-kit gene
    • Hirota S, Okazaki T, Kitamura Y, et al: Cause of familial and multiple gastrointestinal autonomic nerve tumors with hyperplasia of interstitial cells of Cajal is germline mutation of the c-kit gene. Am J Surg Pathol 24:326-327, 2000
    • (2000) Am J Surg Pathol , vol.24 , pp. 326-327
    • Hirota, S.1    Okazaki, T.2    Kitamura, Y.3
  • 37
    • 0034768561 scopus 로고    scopus 로고
    • Familial multiple gastrointestinal stromal tumours with associated abnormalities of the myenteric plexus layer and skeinoid fibres
    • Handra-Luca A, Flejou JF, Molas G, et al: Familial multiple gastrointestinal stromal tumours with associated abnormalities of the myenteric plexus layer and skeinoid fibres. Histopathology 39:359-363, 2001
    • (2001) Histopathology , vol.39 , pp. 359-363
    • Handra-Luca, A.1    Flejou, J.F.2    Molas, G.3
  • 38
    • 0347361543 scopus 로고    scopus 로고
    • PDGFRA germline mutation in a family with multiple cases of gastrointestinal stromal tumor
    • Chompret A, Kannengiesser C, Barrois M, et al: PDGFRA germline mutation in a family with multiple cases of gastrointestinal stromal tumor. Gastroenterology 126:318-321, 2004
    • (2004) Gastroenterology , vol.126 , pp. 318-321
    • Chompret, A.1    Kannengiesser, C.2    Barrois, M.3
  • 39
    • 0036857510 scopus 로고    scopus 로고
    • Somatostatinoma of the papilla of Vater with multiple gastrointestinal stromal tumors in a patient with von Recklinghausen's disease
    • Usui M, Matsuda S, Suzuki H, et al: Somatostatinoma of the papilla of Vater with multiple gastrointestinal stromal tumors in a patient with von Recklinghausen's disease. J Gastroenterol 37:947-953, 2002
    • (2002) J Gastroenterol , vol.37 , pp. 947-953
    • Usui, M.1    Matsuda, S.2    Suzuki, H.3
  • 40
    • 0346025449 scopus 로고    scopus 로고
    • Absence of c-kit gene mutations in gastrointestinal stromal tumours from neurofibromatosis type 1 patients
    • Kinoshita K, Hirota S, Isozaki K, et al: Absence of c-kit gene mutations in gastrointestinal stromal tumours from neurofibromatosis type 1 patients. J Pathol 202:80-85, 2004
    • (2004) J Pathol , vol.202 , pp. 80-85
    • Kinoshita, K.1    Hirota, S.2    Isozaki, K.3
  • 41
    • 0015043748 scopus 로고
    • Mutation and cancer: Statistical study of retinoblastoma
    • Knudson AG Jr: Mutation and cancer: Statistical study of retinoblastoma. Proc Natl Acad Sci U S A 68:820-823, 1971
    • (1971) Proc Natl Acad Sci U S A , vol.68 , pp. 820-823
    • Knudson Jr, A.G.1
  • 42
    • 0038312141 scopus 로고    scopus 로고
    • Gastrointestinal stromal tumors in a mouse model by targeted mutation of the Kit receptor tyrosine kinase
    • Sommer G, Agosti V, Ehlers I, et al: Gastrointestinal stromal tumors in a mouse model by targeted mutation of the Kit receptor tyrosine kinase. Proc Natl Acad Sci U S A 100:6706-6711, 2003
    • (2003) Proc Natl Acad Sci U S A , vol.100 , pp. 6706-6711
    • Sommer, G.1    Agosti, V.2    Ehlers, I.3
  • 43
    • 0035383812 scopus 로고    scopus 로고
    • Signal transducer and activator of transcription 3 activation is required for Asp(816) mutant c-Kit-mediated cytokine-independent survival and proliferation in human leukemia cells
    • Ning ZQ, Li J, Arced RJ: Signal transducer and activator of transcription 3 activation is required for Asp(816) mutant c-Kit-mediated cytokine-independent survival and proliferation in human leukemia cells. Blood 97:3559-3567, 2001
    • (2001) Blood , vol.97 , pp. 3559-3567
    • Ning, Z.Q.1    Li, J.2    Arced, R.J.3
  • 44
    • 0033546145 scopus 로고    scopus 로고
    • STAT protein recruitment and activation in c-Kit deletion mutants
    • Brizzi MF, Dentelli P, Rosso A, et al: STAT protein recruitment and activation in c-Kit deletion mutants. J Biol Chem 274:16965-16972, 1999
    • (1999) J Biol Chem , vol.274 , pp. 16965-16972
    • Brizzi, M.F.1    Dentelli, P.2    Rosso, A.3
  • 45
    • 0037106370 scopus 로고    scopus 로고
    • Prognostic value of KIT mutation type, mitotic activity, and histologic subtype in gastrointestinal stromal tumors
    • Singer S, Rubin BP, Lux ML, et al: Prognostic value of KIT mutation type, mitotic activity, and histologic subtype in gastrointestinal stromal tumors. J Clin Oncol 20:3898-3905, 2002
    • (2002) J Clin Oncol , vol.20 , pp. 3898-3905
    • Singer, S.1    Rubin, B.P.2    Lux, M.L.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.