Objective To investigate the clinicopathological,immunophenotypic and molecular genetic characteristics of epithelioid hemangioendothelioma(EHE)primarily originated in hone.Methods Two cases of primary EHE originated in hont 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 detec-tion 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 immuno-histochemical 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
Key words
Epithelioid hemangioendothelioma/Primarily originated in bone/Immunohistochemistry/Next generation se-quencing/Fluorescence in situ hybridization
维普
万方数据