胃肠道间质瘤临床病理基因分析

Clinicopathologic and genetic analysis in gastroin-testinal stromal tumors

目的探讨胃肠道间质瘤(G I S T)的临床病理、免疫组织化学和基因特征。方法观察3 0例G I S T的病理形态特征、免疫组织化学标记D o g-1、C D 1 1 7、C D 3 4、S M A、S-1 0 0、P G P 9.5、D e s和K i-6 7及K I T和P D G F Rα基因突变情况。结果3 0例G I S T主要是三种病理分型:梭形细胞型2 4例、上皮样细胞型3例和混合细胞型3例。免疫组化D o g-1、C D 1 1 7、C D 3 4阳性,S M A、S-1 0 0、P G P 9.5阴性,且分子检测c-K I T和P D G F Rα基因突变,诊断为G I S T。依据肿瘤的大小,核分裂的多少、K i-6 7指数、肿瘤的原发部位及肿瘤破裂进行危险度分级。结论 G I S T病理形态多变,联合检测D o g-1、C D 1 1 7、C D 3 4、K i-6 7及c-K I T和P D G F Rα基因突变情况对其诊断、鉴别诊断及风险分级、预后、生物靶向治疗提供依据。

Objective To investigate the clinicopathologic immunohistochemical features and gene of gastrointestinal stromal tumors（GISTs）. Methods A total of 30 cases of GISTs were studied by histological evaluation along with immunohistochemistry analysis. Including Dog-1,CD117,CD34,SMA,S-100,PGP9.5,Desmin and Ki-67,c-KIT and PDGFRα gene. Results There were three major morphologic types：spindle cell type（24cases）, epithelioid cell type（3 cases） and mixed cell type（3 cases）. Dog-1、CD117 and CD34 were positive, SMA and S-100 were partly expressed or usually absent. The mutations mainly for c-KIT and PDGFRa, diagnosis as GISTs. Conclusion GISTs have varied cell types; Dog-1,CD117 and CD34 staining can be used in Diagnosis and differential diagnosis, prognosis target therapy of GISTs.