血管周上皮样细胞肿瘤的分子遗传学

Molecular genetics for perivascular epithelioid cell tumors

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） is mesenchymal tumors composed of perivascular epithlioid cells with unique histological and immunohistochemical property.The family of PEComas includes hamartoma of kidney,clear cell ＂sugar＂ tumors of the lung,lymphangiomyomatosis,clear cell myomelanocytic tumor of the falciform ligament and all the clear cell tumors rarely seen in other soft tissues.Recent studies have suggested that tuberous sclerosis complex-1/tuberous sclerosis complex-2（TSC1/TSC2） and transcription factor binding to immunoglobuim heavy chain enhance 3（TFE3） play important roles in molecular genetics of PEComas.However,different genotypes show different prognosis.Mutations in either TSC1 or TSC2 make the function of hamartin or tuberin abnormal,which results in the affected cells exhibiting abnormal growth,differentiation and immigration,and in turn induces neoplasia.Pathogenesis of PEComas related to TFE3 gene fusions is similar to other tumors.This article reviews the correlation between TSC1/TSC2 and TFE3 on PEComas molecular genetics.