中国汉族人Ⅰ型神经纤维瘤病相关性胃肠道间质瘤及文献回顾(附4例报告)  

GISTs associated with neurofibromatosis typeⅠin Chinese han and literatures review:4 cases report

作　　者：徐静[1] 童汉兴[1] 何俊义[1] 陆巍[1] 张勇[1] 朱隽[1] 柳菊[2] 侯英勇[2] 陆维祺[1] 

机构地区：[1]复旦大学附属中山医院普外科,上海200032 [2]复旦大学附属中山医院病理科,上海200032

出　　处：《外科理论与实践》2012年第4期342-345,共4页Journal of Surgery Concepts & Practice

摘　　要：目的:总结中国汉族人Ⅰ型神经纤维瘤病相关性胃肠道间质瘤(gastrointestinal stromal tumor associatedwith neurofibromatosis typeⅠ,GISTANFⅠ)的临床表现及病理特征,探讨其治疗及预后特殊性,为我国GISTANFⅠ的诊治提供初步的经验。方法:收集本院收治的GISTANFⅠ病例4例,结合文献,分析其临床表现、组织病理资料、免疫表型、基因型、治疗及预后特点。结果:本组4例病人,均为中国汉族人。4例肿瘤病灶均原发于小肠,均为多发。4例病人均行手术治疗,其中2例病人除手术外另行靶向治疗。随访4例病人中2例至今无瘤生存,1例术后无瘤生存6年后出现肝脏及腹腔广泛转移,1例死亡。肿瘤细胞多为梭形细胞,核分裂象少见,CD117、CD34均为阳性。3例行基因检测均未见KIT及PDGFRA基因突变。结论:GISTANFⅠ是GIST中的特殊类型,具有特殊的病理特征及基因型,对甲磺酸伊马替尼及舒尼替尼治疗无效。部分GISTANFⅠ预后不佳。Objective Through retrospective analysis of clinical and pathological features, the study aims to the particularity in treatment and prognosis of gastrointestinal stromal tumor associated with neurofibromatosis type I （GISTANF I ） in Chinese Han and provide initial experience in diagnosis and treatment. Methods Four cases were diagnosed as GISTANFI and treated in Zhongshan hospital. The data on clinical manifestations, histopathologic finding, immune phenotype, gene mutation type, treatment and prognosis were analyzed with literature review. Results Four patients of Chinese Han were diagnosed as GISTANF I , and the primary tumors were all located in small bowel and multiple. They were all operated,Two received molecular target therapy. Two are disease-free survival （DFS） up to now. Of others, one was found that tumour metastasized widely to liver and abdominal cavity after six years DFS, and one died of relaps. The tumor cells were typically spindled and low mitotic rate; All of them were positive for CD34 and CD117. No KIT and PDGFRA gene mutation was detected in three patients. Conclusions GISTANF I is a special type of GIST, for pathologic features and genotypes. It responses poorly to imatinib mesylate or sunitinib. Part of the patients have poor prognosis.

关 键 词：胃肠道间质瘤 神经纤维瘤病Ⅰ型 诊断 治疗 预后 

分 类 号：R735[医药卫生—肿瘤]