Purpose To investigate the clinicopathological features, gene mutation pattern and prognosis of multiple gastrointestinal stromal tumors ( GISTs ). Methods 161 cases of GISTs were retrieved for retrospective review, and 5 patients were identified as multiple GISTs. 13 tumors from 5 patients with 2 to 4 tumors each were assessed by KIT/PDGFRA gene mutation assay. The clinicopathological and genotypic characteristics were analyzed in all cases with follow-up. Results In 5 cases, 4 were male and 1 was female. The mean age of the patients was 56.8 years old, ranged from 29 to 77 years. All patients were sporadic, with no clinicopathologic signs of familial GISTs syndrome, type 1 nenrofibromatosis ( NF-1 ), Carney' s triad, and Carney-Stratakis syndrome. Paired tumours originated in stomach/duodenum ( n = 1 ), stomach/omentiim ( n = 2 ), and stomach ( n = 2 ), ranged in size from 0. 8 cm to 9.5 cm ( mean 4. 1 cm ). Histologically, all tumors were composed of spindle cells with mitotic activity ＜5/50 HPFs. Four different mutations of KIT involving exons 9, 11, 13, and 17 were present among 9 of 13 excised tumors. No PDGFRA mutations were detected. A different KIT mutation pattern was detected in 4 of 5 tumors pairs, supporting an independent origin for the matched lesions. In contrast, the two matched lesions carried an identical KIT mutation in 1 patient, suggesting a clonal relationship. No patients received imatinib treatment after surgery. The follow-up of these patients ranges from 24 to 78 months, showing that 1 patient was died from liver metastasis, and 4 patients were disease-free after operation. Conclusions Multiple GISTs are rare, and KIT and PDGFR A mutation analyses can be useful for confirming the diagnosis. Pathological parameters associated with KIT mutation are spindle type, and clinical outcomes require further study.%目的 探讨多个胃肠道间质瘤(gastrointestinal stromal tumors,GISTs)的临床病理特点、基因突变类型及预后.方法 回顾性分析161例GISTs,其中5例含有多个肿块(2～4个/例),共13个肿块,检测KIT基因和血小板源性生长因子受体A(PDGFRA)基因的突变类型,并结合随访资料进行分析.结果 5例多个GISTs中,男性4例,女性1例,年龄范围29～77岁,平均56.8岁.均为散发病例,无家族史,并与神经纤维瘤病1型、卡尼三联征、Carney-Stratakis综合征无相关.病变位于胃/十二指肠1例、胃/网膜2例,均位于胃者2例,直径0.8～9.5 cm(平均4.1 cm).镜下均为梭形细胞型,核分裂象＜5个/50 HPF.13个肿块中9个检测到KIT基因突变(外显子9、11、13、17),未检测到PDGFRA基因突变.同一病例多个肿块有不同基因突变类型者4例,为多克隆起源,同一突变类型者1例,可能具有克隆关系.手术切除后,均未服用伊马替尼治疗.随访24～78个月,1例死于肝脏转移,其余4例均无病生存.结论 多个GISTs较少见,KIT及PDGFRA基因检测可协助判断,梭形细胞型多有KIT基因突变,临床预后需进一步研究.
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