212例胃肠间质瘤的临床病理特征及预后分析

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。

Analysis of the clinical pathological features and prognosis in 212 patients with gastrointestinal stromal tumors

Objective To investigate the clinical and molecular pathological features of gastrointestinal stromal tumors（GIST）,and to analyze the prognostic factors of GIST.Methods The clinicopathological and follow-up data of 212 GIST patients from April 2004 to August 2011 in Nanfang Hospital were analyzed retrospectively.The influences of different factors on the prognosis were determined by survival analysis.Matrix-assisted laser desorption/ionization-time of flight mass spectrometry was applied to detect mutations of related sites in KIT and PDGFRa genes for 53 patients who accepted the treatment of mesylate imatinib.Results Univariate survival analysis showed that tumor size,mitotic counts,national institutes of health risk grade,metastasis,surgery and imatinib mesylate were associated with survival rates of GIST patients.Multivariate survival analysis revealed that NIH risk grade and imatinib mesylate were two independent prognostic factors influencing the prognosis of GIST patients.Among 53 GIST patients,KIT gene mutations were found in 39（73.6%） patients,among whom exons 11 and 9 were mutated in 21（53.8%） and 13（33.3%） patients,respectively.In flamed deletions in 557 to 558 codons of 5′end were the most common form of changes in mutated exon 11.All forms of exon 9 mutations were inserted tandem duplication.PDGFRa gene mutations were not detected.Conclusion NIH risk grade and imatinib mesylate are closely related to survival of GIST patients.Gene mutations detection has great significance in guiding biological targeted therapy and predicting efficacy of treatment.