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基因突变检测在胃肠间质瘤诊断和治疗中的应用及其价值 被引量:11

Application and value of mutation detection in diagnosis and treatment of gastrointestinal stromal tumor
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摘要 c-kit和PDGFRA基因突变是胃肠间质瘤(GIST)最重要的分子特征。对这两个基因突变的检测对于诊断KIT阴性GIST具有重要意义,同时还可以用于预测酪氨酸激酶受体抑制剂的治疗效果。此外,近年来更多的研究关注于把基因突变状态作为判断GIST预后因子的可行性。 Mutation of c-kit and platelet-derived growth factor receptor alpha (PDGFRA) is the most important molecular feature of gastrointestinal stromal tumor (GIST). Mutation detection of these two genes is of great significance when establishing the diagnosis of a kit-negative GIST, or when predicting response to tyrosine kinase inhibitor. Furthermore, more and more researches focus on the feasibility of the mutation status using as a prognostic factor in recent years.
作者 曹晖 汪明
出处 《中华胃肠外科杂志》 CAS CSCD 2013年第3期208-211,共4页 Chinese Journal of Gastrointestinal Surgery
基金 国家自然科学基金(81272743) 上海市科学技术委员会基金(11411950800)
关键词 胃肠间质瘤 c—kit基因 血小板源性生长因子受体 基因突变 预后 Gastrointestinal stromal tumors c-kitgene Platelet-derived growth factor alpha Gene mutation Prognosis
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参考文献32

  • 1Hirota S, Isozaki K, Moriyama Y, et al. Gain-of-function mutations of c-kit in human gastrointestinal stromal tumors. Science, 1998,279:577-580.
  • 2Heinrich MC, Corless CL, Duensing A, et al. PDGFRA activating mutations in gastrointestinal stromal tumors. Science, 2003,299 : 708-710.
  • 3ESMO/European Sarcoma Network Working Group. Gastrointestinal stromal tumors : ESMO Clinical Practice Guidelines for diagnosis, treatment and follow-up. Ann Oncol, 2012,23 Suppl 7 : vii49-vii55.
  • 4Demetri GD, von Mehren M, Antonescu CR, et al. NCCN Task Force report: update on the management of patients with gastrointestinal stromal tumors. J Natl Compr Canc Netw, 2010,8 Suppl 2:S1-S41.
  • 5中国胃肠间质瘤诊断治疗专家共识(2011年版)[J].中华胃肠外科杂志,2012,15(3):301-307. 被引量:117
  • 6刘泳冬,赵薇薇,陈慧娟,林汉良.重视标本固定以提高胃肠间质瘤的诊断质量[J].中华胃肠外科杂志,2012,15(3):234-235. 被引量:3
  • 7Heinrich MC, Corless CL, Demetri GD, et al. Kinase mutations and imatinib response in patients with metastatic gastrointestinal stromal tumor. J Clin Oncol, 2003,21:4342- 4349.
  • 8Verweij J, Casali PG, Zalcberg J, et al. Progression-free survival in gastrointestinal stromal tumours with high-dose imatinib: randomised trial. Lancet, 2004,364:1127-1134.
  • 9Miettinen M, Sobin LH, Lasota J. Gastrointestinal stromal tumors of the stomach: a clinicopathologic, immunohisto- chemical, and molecular genetic study of 1765 cases with long- term follow-up. Am J Surg Pathol, 2005,29:52-68.
  • 10Lasota J, Dansonka-Mieszkowska A, Sobin LH, et al. A great majority of GISTs with PDGFRA mutations represent gastric tumors of low or no malignant potential. Lab Invest, 2004,84: 874-883.

二级参考文献70

  • 1贺慧颖,方伟岗,钟镐镐,李燕,郑杰,杜娟,衡万杰,吴秉铨.165例胃肠道间质瘤中c-kit和PDGFRA基因突变的检测和临床诊断意义[J].中华病理学杂志,2006,35(5):262-266. 被引量:73
  • 2秦新裕,刘凤林.胃肠道间质瘤的研究进展与展望[J].中华普通外科杂志,2007,22(8):561-563. 被引量:34
  • 3何纯刚,陈利生,李君,张森,梁君林,曹云飞.胃肠道外间质瘤的临床特征、治疗与预后[J].中华普通外科杂志,2007,22(8):579-581. 被引量:14
  • 4Steigen SE, Eide TJ. Gastrointestinal stromal tumors (GISTs): a review. APMJS, 2009,117(2) :73-86.
  • 5Lasota J, Jasinski M, Sarlomo Rikala M, et al. Mutations in exonll of C-kit occur preferentially in malignant versus benign gastrointestinal stromal tumors and do not occur in leiomyomas or leiomyosarcomas. Am J Pathol, 1999, 154 ( 1 ) : 53-60.
  • 6Rubin BP, Singer S, Tsao C, et al. KIT activation is a ubiquitous feature of gastrointestinal stromal tumor. Cancer Res, 2001,61(22) :8118-8121.
  • 7Corless CL, McGreevey L, Haley A,et al. KIT mutations are common in incidental gastrointestinal stromat tumors one centimeter or less in size. Am J Pathol, 2002,160 (5) : 1567-1572.
  • 8Ernst SI, Hubbs AE, Przygodzki RM,et al. Kit mutation protends poor prognosis in gastrointestinal stromal/smooth muscle tumors. Lab Invest, 1998,78(12) : 1633-1636.
  • 9Moskaluk CA, Tian Q, Marshall CR, et al. Mutations of C-kit JM domain are found in a minority of human gastrointestinal stromal tumors. Oncogene, 1999, 18(10) : 1897-1902.
  • 10Mart~n J, Poveda A, Llombart-Bosch A, et al. Deletions affecting codons 557-558 of the C-kit gene ndicate a poor prognosis in patients with completely resected gastrointestinal stromal tumors: a study by the spanish group for sarcoma research (GEIS). J Clin Oncol, 2005,23(25):6190-6198.

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