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血管周上皮样细胞肿瘤(perivascular epithelioid cell tumours,PEComas)是由组织学和免疫组织化学上有独特表现的血管周上皮样细胞构成的间叶性肿瘤,PEComas家族包括肾血管平滑肌脂肪瘤、肺透明细胞“糖”瘤、淋巴管肌瘤病、淋巴管平滑肌瘤、镰状韧带透明细胞肌黑色素细胞性肿瘤和其他部位罕见的透明细胞肿瘤。最新研究表明结节性硬化复合物蛋白1/结节性硬化复合物蛋白2(tuberous sclerosis complex-1/tuberous sclerosis com-plex-2,TSC1/TSC2)和结合于免疫球蛋白重链(基因)增强子的转录因子3(transcription factor binding to immuno-globuim heavy chain enhancer3,TFE3)等在PEComas分子遗传学上起到重要作用,而基因分型不同,预后也存在差别。由于TSC1/TSC2基因异常导致了其转录产物错构瘤蛋白和马铃薯蛋白功能的异常,从而影响了正常的细胞生成、分化和移行过程,进而形成肿瘤。TFE3基因融合与PEComas发病机制的关系,可能与其他TFE3基因融合的相关肿瘤相似。本文对TSC1/TSC2和TFE3在PEComas分子遗传学中的关联性进行综述。
Perivascular epithelioid cell tumors (PEComas) are mesenchymal tumors consisting of perivascular epithelial cells that are histologically and immunohistochemically unique. The PEComas family includes renal angiomyolipoma, Cell “” sugar ", lymphangiomyosarcoma, lymphangioleiomyoma, clear cell myxoma of sickle ligament and rare clear cell tumor in other areas. Recent studies have shown that tuberous sclerosis complex-1 / tuberous sclerosis com-plex-2 (TSC1 / TSC2) and antibodies that bind to immunoglobulin heavy chains (genes) The transcription factor binding to immuno-globuim heavy chain enhancer3 (TFE3) plays an important role in the molecular genetics of PEComas. However, the genotyping is different and the prognosis is also different. Abnormalities in the TSC1 / TSC2 gene lead to aberrant dysfunction of the hamartoma protein and potato protein, thus affecting normal cell formation, differentiation and migration and thus tumor formation. TFE3 gene fusion and the pathogenesis of PEComas may be related to other TFE3 gene fusion similar tumors. This article reviews the association of TSC1 / TSC2 and TFE3 in molecular genetics of PEComas.