伴有TFE3扩增的肾脏上皮样血管平滑肌脂肪瘤

目的探讨伴有TFE3扩增的肾脏上皮样血管平滑肌脂肪瘤(epithelioid angiomyolipoma,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-cence in situ hybridization,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、cathepsin K,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。

Renal epithelioid angiomyolipoma with TFE3 gene amplification

Purpose To investigate pathological features,differential diagnosis and biological behaviour of epithelioid angiomyolipoma with TFE3 gene amplification.Methods A renal epithelioid angiomyolipoma with TFE3 gene amplification was studied by histopathology,immunohistochemistry and fluorescence in situ hybridization,the prognosis of patient was evaluated by follow-up,and the related literatures were reviewed.Results The case showed purely epithelioid morphology with cell anaplasia and multipolar mitotic figures.The tumor cells presented diffuse distribution in invasive growth and were positive for SMA,TFE3 and cathepsin K.FISH demonstrated TFE3 gene amplification with no translocation in tumor cells.The tumor recurrenced three months after resection and six months later the patient appeared widely abdominal invasion with lung metastasis.Conclusions In morphology and growth pattern this tumor displays more malignant features and very poor prognosis.The tumor might be an entity different from typical epithelioid angiomyolipoma and must be distinguished from other tumors with similar morphology.