伴有TFE3扩增的肾脏上皮样血管平滑肌脂肪瘤.pdfVIP

临床与实验病理学杂志 JClinExpPathol 2012Jun；28(6) ·639 · 伴有 TFE3扩增的肾脏上皮样血管平滑肌脂肪瘤 沈 勤 ，饶 秋 ，余 波，王 璇 ，马恒辉 ，周晓军 摘要：目的 探讨伴有TFE3扩增的肾脏上皮样血管平滑肌脂肪瘤 (epithelioidangiomyolipoma，EAML)的病理学特征、鉴别诊 断及生物学行为。方法 对 1例伴有TFE3扩增的肾脏 EAML进行组织形态学观察、免疫组化染色及荧光原位杂交(fluores． cenceinsituhybridization，FISH)检测 ，追踪随访患者预后 ，并复习相关文献。结果 该例EAML呈片状弥漫分布，瘤细胞呈上 皮样改变，细胞形态异型性较大，核分裂象易见。肿瘤侵犯包膜。瘤细胞表达SMA、TFE3、cathepsinK，TFE3基因出现多倍体 扩增，未见易位发生。患者第一次手术3个月后肿瘤复发，术后半年腹腔肿瘤广泛侵犯 、肺部见转移。结论 伴有 TFE3扩增 的EAML组织学形态及生长方式更具恶性特征，预后更差，与经典型EAML有所不同，需与其他形态学相似的肿瘤相鉴别。 关键词：肾脏肿瘤；上皮样血管平滑肌脂肪瘤；TFE3扩增 ；免疫组织化学；荧光原位杂交 中图分类号：R737．11 文献标志码：A 文章编号：1001—7399(2012)06—0639—04 RenalepithelioidangiomyolipomawithTFE3geneamplification SHENQin，RAOQiu，YuBo，WANGXuan，MAHeng·hui，ZHOUXiao—jun (DepartmentofPathology，NanjingGeneralHospitalofNanjingCommand，Nanfing 210002，China) Abstract：Purpose Toinvestigatepathologicalfeatures，differentialdiagnosisandbiologicalbehaviourofepithelioidangiomyolipoma withTFE3geneamplification．M ethods A renalepithelioidangiomyolipomawithTFE3geneamplificationwasstudiedbyhistopathol— ogy，immunohistochemistryandfluorescenceinsituhybridization，theprognosisofpatientwasevaluatedbyfollow—up，andtherelated literatureswerereviewed．Results Thecaseshowedpurelyepithelioidmorphologywithcellanaplasiaandmuhipolarmitoticfigures． Th etumorcellspresenteddiffusedistributionininvasivegrowthandwerepositiveforSMA，TFE3andcathepsinK．FISH demonstrated TFE3geneamplificationwithnotranslocationintumorcells．Thetumorrecurrencedthreemonthsafterresectionandsixmonthslater thepatientappearedwidelyabdominalinvasionwithlungmetastasis．Conclusions Inmorpholoyg andgrowthpatternthistumordis- playsmoremalignantfeaturesandverypoorprognosis．Thetumormightbeanentitydifferentfrom typical epithelioidangiomyolipoma nadmustbedistinguishedfrom othertumorswithsimilarmoprhology． Key words：kidneyneoplasms：epithelioidangiomyolipoma；TFE3geneamplification；immunohistochemistry；fluorescenceinsituhy— bridization 上皮样血管平滑肌脂肪瘤 (epithelioidan