骨原发性上皮样血管内皮瘤2例临床病理学分析并文献复习  

Clinicopathological features of primary epithelioid hemangioendothelioma originated in bone:report of two cases and literature review

作　　者：董淑慧[1] 杨勇[1] 刘爱东 熊光宜[1] 徐瑾[1] 王瑞琳[1] DONG Shu-hui;YANG Yong;LIU Ai-dong;XIONG Guang-yi;XU Jin;WANG Rui-lin(Department of Pathology,Tianjin Hospital of Tianjin City,Tianjin 300211,China)

机构地区：[1]天津市天津医院病理科,天津300211

出　　处：《诊断病理学杂志》2024年第8期711-714,共4页Chinese Journal of Diagnostic Pathology

摘　　要：目的探讨骨原发性上皮样血管内皮瘤(EHE)的临床病理学特征、免疫表型和分子遗传学特征。方法收集天津市天津医院2022年10月至2023年5月期间诊断的2例原发于骨的上皮样血管内皮瘤病例,进行HE染色、免疫组织化学染色、二代测序(NGS)及荧光原位杂交(FISH)检测。对其临床资料,影像学表现,组织病理学特征,免疫表型及分子检测结果进行总结并结合相关文献进行分析。结果例1,女性,46岁,发生于右股骨近端及骨盆多发性溶骨性病变;例2,男性,54岁,发生于左胫骨中段单发溶骨性病变。免疫表型瘤细胞均不同程度表达血管内皮标记物CD34,CD31,ERG,FLi-1,例1灶状表达EMA,例2部分表达SATB2,2例均表达TFE3;CKpan及CAMTA1均阴性;高通量测序法(NGS)检测发现例1伴有YAP1:exon1-TFE3:exon4基因融合;例2行TFE3的FISH检测可见基因断裂信号。结论发生于骨的上皮样血管内皮瘤是一种血管源性恶性肿瘤,肿瘤细胞以上皮样细胞形态为主,常可见胞质内空泡或有血管腔形成,表达血管内皮标记物,本文2例均伴有TFE3的基因改变。形态学结合影像学以及免疫组化染色有助于诊断和鉴别诊断;必要时行基因检测。Objective To investigate the clinicopathological,immunophenotypic and molecular genetic characteristics of epithelioid hemangioendothelioma(EHE)primarily originated in bone.Methods Two cases of primary EHE originated in bont were cottected,which were diagnosed at Tianjin Hospital of Tianjin City from October 2022 to May 2023,and HE staining,immunohistochemistry staining,next generation sequencing(NGS),and fluorescence in situ hybridization(FISH)were performed.Their clinical data,imaging findings,histopathological features,immune phenotypes and molecular detection results were analyzed in conjunction with relevant literature.Results Case 1,female,46 years old,developed multiple osteolytic lesions in the proximal right femur and pelvis;Case 2,male,54 years old,developed a solitary osteolytic lesion in the middle of the left tibia.Immunophenotypically,tumor cells all expressed vascular endothelial markers CD34,CD31,ERG and FLi-1 to varying degrees;case 1 showed focal expression of EMA,case 2 partially expressed SATB2 and both cases expressed TFE3;CKpan and CAMTA1 were both negative.NGS revealed that case 1 was accompanied with YAP1:exon1-TFE3:exon4 gene fusion;the FISH detection of TFE3 in case 2 showed gene breakage signals.Conclusion EHE primarily originated in bone is a vascular derived malignant tumor,with tumor cells predominantly in the form of epithelial cells.We can often discover intracytoplasmic vacuoles or vascular lumen formation and the tumor cells express vascular en dothelial markers.In these both cases,TFE3 gene changes are observed.Morphology combined with imaging and immunohistochemical staining can aid in the diagnosis and differential diagnosis;genetic testing can be performed if necessary.

关 键 词：上皮样血管内皮瘤 骨原发 免疫组化 二代测序 荧光原位杂交 

分 类 号：R732.2[医药卫生—肿瘤]