摘要目的 探讨BRAF V600E特异性抗体在胃肠道间质瘤(GIST)中的敏感性及特异性.方法 使用BRAF V600E突变特异性抗体(VE1)检测14例KIT或血小板衍生生长因子受体A(PDGFRA)突变及10例KIT/PDGFRA野生的GIST病例,并与Sanger测序结果进行验证.结果 24例GIST患者中11例男性,13例女性,中位年龄54岁(29 ～75岁);发生于胃16例、小肠7例、腹腔1例.BRAF V600E胞质弥漫强阳性表达4例(16.7％,4/24),弱阳性1例(4.2％,1/24),阴性19例(79.2％,19/24).其中强阳性病例经测序验证为BRAF基因V600E突变,其发病部位3例位于胃,1例位于小肠,组织学形态均为梭形细胞型.除1例小肠的病例危险度分级为高危险度外,其余病例均为极低或低危险度.测序检测BRAF V600E弱阳性或阴性表达的病例没有发现BRAF V600E突变.结论 BRAF V600E特异性抗体(VE1)是GIST中检测BRAF突变一种高敏感性及特异性的方法,可以大范围应用于临床检测.

abstractsObjective To evaluate the utility of BRAF V600E allele-specific antibody in the diagnosis of gastrointestinal stromal tumors (GISTs).Methods BRAF V600E mutation-specific immunohistochemistry and BRAF sequencing were performed in 24 consecutive GISTs,including 14 cases of KIT or PDGFRA mutations and 10 cases of KIT/PDGFRA wild GISTs.Results GISTs of 11 men and 13 women with a mean age 54 years(range 29-75 years) were included with tumors arising from stomach (16 cases),small bowel (7 cases),and peritoneal cavity (1 case).Strong and diffuse cytoplasmic BRAF staining was noted in 4 of 24 cases (17％),while 1 of 24 cases (4％) showed weak staining,and 19 of 24 cases (79％) had no staining.The four cases with strong BRAF immunostain were confirmed to have BRAF mutations,including 3 cases in the stomach and 1 case in the small intestine.All tumors showed spindle cell morphology.Only one case had progressive disease.No BRAF mutations were detected in cases with weak or negative BRAF immunostain.Conclusion BRAF V600E mutation-specific immunohistochemistry is a highly sensitive and specific marker for detecting BRAF-mutated GISTs.