Chen Xiu Fen, Yeong Joe, Chang Kenneth Tou En, Lim Alvin Soon Tiong, Kuick Chik Hong, Lim Tse Hui, Sudhanshi Jain, Selvarajan Sathiyamoorthy, Gan Valerie Huei Li, Khor Li Yan
Department of Pathology, Singapore General Hospital, Singapore
Department of Pathology, Singapore General Hospital, Singapore.
Ann Clin Lab Sci. 2018 Jan;48(1):110-115.
Perivascular epithelioid cell tumor (PEComa) is an uncommon tumor which presents with epithelioid and spindled cell morphology and is immunoreactive for myogenic and melanocytic markers. Recently, a subset of PEComas has been reported to harbor gene rearrangement.In this case report, we describe a -expressing primary bladder PEComa in a 27-year-old male patient with acute myeloid leukaemia in remission. The tumor displayed epithelioid morphology with surrounding delicate blood vessels and was devoid of a prominent spindle cell component. Malignant features were not identified. The tumor expressed HMB45, CD117, and focal patchy positive expression for SMA. gene translocation was confirmed by Fluorescence in-situ hybridization. RT-PCR assay confirmed the presence of gene fusion.In contrast to previously reported aggressive gene-rearranged bladder PEComa cases, our case shows benign histologic and clinical features. Current clinical follow-up also shows a benign course.
血管周上皮样细胞瘤（PEComa）是一种罕见肿瘤，具有上皮样和梭形细胞形态，对肌源性和黑素细胞标记物呈免疫反应性。最近，有报道称一部分PEComas存在基因重排。在本病例报告中，我们描述了一名27岁处于急性髓系白血病缓解期的男性患者，其原发性膀胱PEComa表达α。肿瘤呈上皮样形态，周围有纤细血管，无明显的梭形细胞成分。未发现恶性特征。肿瘤表达HMB45、CD117，平滑肌肌动蛋白（SMA）呈局灶性斑片状阳性表达。通过荧光原位杂交证实了α基因易位。逆转录聚合酶链反应（RT-PCR）检测证实存在α基因融合。与先前报道的侵袭性α基因重排膀胱PEComa病例不同，我们的病例显示出良性的组织学和临床特征。目前的临床随访也显示病程为良性。
