Inherited Predisposition to Gastrointestinal Stromal Tumor

被引:28
作者
Agarwal, Rinki [1 ]
Robson, Mark [1 ]
机构
[1] Mem Sloan Kettering Canc Ctr, Clin Genet & Breast Canc Med Serv, Dept Med, New York, NY 10065 USA
关键词
Gastrointestinal stromal tumor; Germline; c-KIT; PDGFRA; Neurofibromatosis; Carney-Stratakis; C-KIT GENE; AUTONOMIC NERVE TUMORS; FACTOR-RECEPTOR-ALPHA; GERMLINE MUTATION; CARNEY TRIAD; FAMILIAL GIST; MOUSE MODEL; EXTRAADRENAL PARAGANGLIOMA; NEUROFIBROMATOSIS TYPE-1; PULMONARY CHONDROMA;
D O I
10.1016/j.hoc.2008.12.003
中图分类号
R73 [肿瘤学];
学科分类号
100214 [肿瘤学];
摘要
Gastrointestinal stromal tumors (GIST) are the most common mesenchymal tumors of the gastrointestinal tract and are a relatively recently identified category of mesenchymal tumors. Germline mutations in a number of different genes predispose to GIST. This article discusses familial GIST syndrome, Carney triad, Carney-Stratakis syndrome, and neurofibromatosis type 1, and addresses the recognition of an inherited predisposition in GIST patients.
引用
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页码:1 / +
页数:14
相关论文
共 55 条
[1]
Agaimy A, 2007, ONCOL REP, V18, P9
[2]
Beghini A, 2001, CANCER, V92, P657, DOI 10.1002/1097-0142(20010801)92:3<657::AID-CNCR1367>3.0.CO
[3]
2-D
[4]
Separate occurrence of extra-adrenal paraganglioma and gastrointestinal stromal tumor in monozygotic twins: Probable familial Carney syndrome [J].
Boccon-Gibod, L ;
Boman, F ;
Boudjemaa, S ;
Fabre, M ;
Leverger, G ;
Carney, AJ .
PEDIATRIC AND DEVELOPMENTAL PATHOLOGY, 2004, 7 (04) :380-384
[5]
Population-based study of the diagnosis and treatment of gastrointestinal stromal tumours [J].
Bumming, P. ;
Ahlman, H. ;
Andersson, J. ;
Meis-Kindblom, J. M. ;
Kindblom, L. -G. ;
Nilsson, B. .
BRITISH JOURNAL OF SURGERY, 2006, 93 (07) :836-843
[6]
Novel c-KIT germline mutation in a family with gastrointestinal stromal tumors and cutaneous hyperpigmentation [J].
Carballo, M ;
Roig, I ;
Aguilar, F ;
Pol, MA ;
Gamundi, MJ ;
Hernan, I ;
Martinez-Gimeno, M .
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2005, 132A (04) :361-364
[7]
Familial paraganglioma and gastric stromal sarcoma: A new syndrome distinct from the Carney triad [J].
Carney, JA ;
Stratakis, CA .
AMERICAN JOURNAL OF MEDICAL GENETICS, 2002, 108 (02) :132-139
[8]
TRIAD OF GASTRIC LEIOMYOSARCOMA, FUNCTIONING EXTRA-ADRENAL PARAGANGLIOMA AND PULMONARY CHONDROMA [J].
CARNEY, JA ;
SHEPS, SG ;
GO, VLW ;
GORDON, H .
NEW ENGLAND JOURNAL OF MEDICINE, 1977, 296 (26) :1517-1518
[9]
Gastric stromal sarcoma, pulmonary chondroma, and extra-adrenal paraganglioma (Carney triad): Natural history, adrenocortical component, and possible familial occurrence [J].
Carney, JA .
MAYO CLINIC PROCEEDINGS, 1999, 74 (06) :543-552
[10]
Polyclonal nature of diffuse proliferation of interstitial cells of Cajal in patients with familial and multiple gastrointestinal stromal tumours [J].
Chen, H ;
Hirota, S ;
Isozaki, K ;
Sun, H ;
Ohashi, A ;
Kinoshita, K ;
O'Brien, P ;
Kapusta, L ;
Dardick, I ;
Obayashi, T ;
Okazaki, T ;
Shinomura, Y ;
Matsuzawa, Y ;
Kitamura, Y .
GUT, 2002, 51 (06) :793-796