原发血小板源性生长因子受体α多肽基因突变型胃肠道间质瘤的临床病理特征及预后分析  

Clinical characteristics and prognosis of primary gastrointestinal stromal tumors with PDGFRα mutation

作　　者：刘炜圳 王涛[1] 张鹏[1] 陈鑫 孙雄 林曜 万文泽 刘兴华 王国斌[1] 陶凯雄[1] Liu Weizhen;Wang Tao;Zhang Peng;Chen Xin;Sun Xiong;Lin Yao;Wan Wenze;Liu Xinghua;Wang Guobin;Tao Kaixiong(Department of Gastrointestinal Surgery,Union Hospital,Tongji Medical College,Huazhong University of Science and Technology,Wuhan 430022,China)

机构地区：[1]华中科技大学同济医学院附属协和医院胃肠外科,武汉430022

出　　处：《中华普通外科杂志》2020年第8期624-627,共4页Chinese Journal of General Surgery

基　　金：国家自然科学基金(81702386、81874184);希思科-豪森肿瘤研究基金(Y-HS2019-38)。

摘　　要：目的探讨原发血小板源性生长因子受体α多肽(PDGFRα)基因突变型胃肠道间质瘤(GIST)的临床病理特征,并分析不同基因亚型患者的预后.方法回顾性分析2010年6月至2019年6月间华中科技大学同济医学院附属协和医院诊治的35例原发PDGFRα基因突变型GIST患者的临床病理特征、治疗方式及预后.结果本组35例GIST患者的首发症状为腹部疼痛或腹胀28例(80%),腹部包块6例(17%),便血1例(3%).肿瘤位于胃31例(89%),胃以外4例(11%);组织形态中梭形细胞型14例(40%),上皮样细胞型13例(37%),梭形细胞-上皮样细胞混合型8例(23%);免疫组织化学染色显示CD117阳性27例(77%),CD34阳性28例(80%),DOG-1阳性30例(86%);PDGFRαD842V突变19例(54%),非D842V突变16例(46%).35例患者均行完整手术切除,无围手术期死亡.D842V突变组患者的3年无复发生存率比非D842V突变组患者的低,差异有统计学意义(84%比100%,P=0.045).结论GIST中PDGFRα基因突变率较低,多原发于胃.PDGFRα基因突变型的GIST呈惰性生物学行为,整体预后较好.Objective To investigate the clinicopathological characteristics of primary gastrointestinal stromal tumors(GIST)with PDGFRa mutation and analyze the prognosis of different subtypes.Methods From Jun 2010 to Jun 2019,the clinicopathological data of 35 patients with primary PDGFR mutation GIST,who underwent surgical therapy in the Union Hospital,Tongji Medical College,Huazhong University of Science and Technology,were analyzed retrospectively.Results The main symptoms was abdominal pain(28 cases,80%),followed by abdominal mass(6 cases,17%),and hemafecia(1 case,3%).31 primary lesions(89%)were located in the stomach and4(11%)in other than stomach.13 cases(37%)were of epithelioid cells,14 cases(40%)were of spindle cells and 8 cases(23%)were of mixed cells.27 cases(77%)were CD117 positive,28 cases(80%)CD34 positive,and 30 cases(86%)were DOG-1 positive.19 cases(54%)had D842V mutation and 16 cases(46%)had non-D842 V mutation,Complete'surgical resection was performed in all patients,with no perioperative death.The 3-year recurrence-free survival rate of the D842V mutation group was lower than that of the non-D842V mutation group(84%us.100%,P=0.045).Conclusions The mutation rate of PDGFRa gene was low,mostly derived from the stomach.PDGFRa mutation GIST presents inert biological behavior and the overall prognosis was good.

关 键 词：胃肠道间质肿瘤 血小板源性生长因子 病理学 临床 预后 

分 类 号：R735[医药卫生—肿瘤]