10例肝脏上皮样血管内皮细胞瘤临床病理分析及特征总结

Clinicopathological features of hepatic epithelioid hemangio-endothelioma:an analysis of ten cases

目的探讨原发性肝脏上皮样血管内皮细胞瘤(HEHE)的临床病理学特征、免疫组化、分子病理特征及鉴别诊断。方法回顾性分析10例HEHE患者的临床资料、组织病理学与免疫组化特征以及基因检测结果。结果10例HEHE患者中,男性5例,女性5例,其中大部分临床表现为腹部隐痛不适、腹胀、恶心伴疲倦乏力,少数病例为体检时发现肝脏占位。7例为肝内多发结节,3例为单发结节,其中2例伴肺部转移。镜下肿瘤细胞呈梭形或上皮样,排列呈条索状、巢片状,高倍镜下观察肿瘤细胞具有嗜酸性胞质,胞质内可见特征性空泡形成,肿瘤间质常伴黏液样变性,细胞核具有轻至中度异型性,偶见核分裂象和坏死。免疫组化结果:肿瘤细胞表达CD31、CD34、ERG、FⅧ等血管源性标志物,Ki-67增殖活性较低。其中1例行荧光原位杂交(FISH)结果检测到TFE 3基因断裂阳性。结论HEHE为少见的血管源性恶性肿瘤,临床表现及辅助检查通常无特异性,需结合组织学、免疫组化及基因检测等诊断。

Objective To investigate the clinicopathological features,immunohistochemistry and molecular pathology of primary hepatic epithelioid hemangioendothelioma(HEHE).Methods The clinical data,histopathologic features,immunohistochemistry and gene test result of 10 patients with HEHE were retrospectively analyzed.Results Among the 10 HEHE patients,there were 5 males and 5 females.Most of them were presented with abdominal pain and discomfort,abdominal distension,nausea and fatigue.A few cases were found to have a liver mass on physical examination.7 patients had multiple intrahepatic nodules,3 had single nodules,2 of which were accompanied by pulmonary metastasis.Microscopically,the tumor cells were fusiform or epithelioid,arranged in cords and nests.At high magnification,the tumor cells had eosinophilic cytoplasm,and characteristic vacuole was observed inside the cytoplasm.The tumor stroma was often accompanied by myxoid degeneration.The nuclei of the tumor had mild to moderate atypia,mitosis or necrosis could be seen occasionally.Immunohistochemical result showed that the tumor cells expressed vascular markers such as CD31,CD34,ERG,FVIII or other vascular markers,and Ki-67 index often showed low proliferation activity.In one case,the TFE3 gene was found disrupted by fluorescence in situ hybridization(FISH)test.Conclusion HEHE is a rare vascular malignant tumor.Clinical manifestations and objective examination are usually nonspecific.The precise diagnosis should be confirmed by morphology,immunohistochemistry and necessarily molecular biological tests.