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目的探讨胃肠间质瘤(GIST)的临床特征和分子病理学特点,分析影响GIST预后的相关因素。方法回顾性分析2004年4月至2011年8月南方医院收治的212例GIST患者的临床病理和随访资料,应用生存分析比较不同因素对预后的影响。对接受甲磺酸伊马替尼治疗的53例患者,采用基质辅助激光解析/电离-飞行时间质谱方法检测KIT和PDGFRa基因相关位点的突变情况。结果单因素生存分析显示肿瘤大小、核分裂数、美国国立卫生研究所(NIH)危险度分级、转移、手术及甲磺酸伊马替尼影响GIST患者的生存率。多因素生存分析提示,NIH危险度分级和甲磺酸伊马替尼是影响预后的独立因素。53例GIST患者中,KIT基因突变39例(73.6%),其中外显子11突变21例(53.8%),外显子9突变13例(33.3%)。KIT外显子11突变形式主要为5’端第557-558密码子缺失最常见;外显子9突变均为插入串联重复。未检测到PDGFRa基因突变的病例。结论 NIH危险度分级和甲磺酸伊马替尼治疗与GIST患者的生存密切相关,基因突变检测对指导生物靶向治疗和预测其疗效具有重要意义。
Objective To investigate the clinical features and molecular pathological features of gastrointestinal stromal tumors (GIST) and analyze the related factors that influence the prognosis of GIST. Methods The clinical data of 212 GIST patients treated in Nanfang Hospital from April 2004 to August 2011 were retrospectively analyzed. Survival analysis was used to compare the effects of different factors on prognosis. Of 53 patients receiving imatinib mesylate, matrix-assisted laser desorption / ionization-time of flight mass spectrometry was used to detect mutations associated with KIT and PDGFRa genes. Results Univariate survival analysis showed tumor size, mitotic figures, NIH risk grade, metastasis, surgery, and imatinib mesylate affect survival in patients with GIST. Multivariate survival analysis suggested that NIH risk grade and imatinib mesylate were independent prognostic factors. Of the 53 GIST patients, 39 (73.6%) had KIT mutations, of which 21 (53.8%) had exon 11 mutations and 13 (33.3%) had exon 9 mutations. Mutation of KIT exon 11 is mainly the 5 ’end of the 557-558 codon deletion most common; exon 9 mutations were inserted tandem repeats. No cases of mutations in the PDGFRa gene were detected. Conclusion NIH risk grade and imatinib mesylate treatment are closely related to the survival of GIST patients. The detection of gene mutation is of great importance in guiding the biological targeted therapy and predicting its curative effect.