Abstract：
Epithelioid hemangioendothelioma (EHE) is a remarkably rare tumor arising from endothelial cells that is classified as a vascular tumor in the WHO classification. The tumor is predominantly characterized by the presence of fusion genes, such as WWTR1-CAMTA1 or YAP1-TFE3, with a minority of cases exhibiting other rare fusion genes. EHE exhibits a broad age of onset, typically presenting at ~50 years, but it is not uncommon in pediatric populations. It manifests in a variety of organs, including the liver, lung, soft tissue and bone. Initial multiple-organ involvement is also observed. The tumor\'s biological behavior and prognosis vary substantially based on the primary site of manifestation. From a therapeutic perspective, initial active surveillance might be considered in selected cases, although surgical intervention remains the mainstay of treatment, especially for localized single-organ involvement. Chemotherapy is administered to patients with progressive unresectable tumors. Recent advances in the biological analysis of EHE fusion genes have elucidated their diverse functions. Additionally, next-generation sequencing has facilitated the identification of other mutations beyond the fusion genes. These continuous efforts to understand the biology of the fusion genes themselves and/or the dysregulated signaling by fusion genes are expected to lead to the development of novel therapeutic strategies for EHE. This article aims to provide a comprehensive review of EHE, encompassing its historical context, clinical manifestations, molecular biology and the current state of treatment.
摘要：
上皮样血管内皮瘤（EHE）是由内皮细胞引起的非常罕见的肿瘤，在WHO分类中被归类为血管肿瘤。肿瘤的主要特征是融合基因的存在，例如WWTR1-CAMTA1或YAP1-TFE3，少数病例表现出其他稀有融合基因。EHE表现出广泛的发病年龄，通常在50岁左右出现，但在儿科人群中并不少见。它表现在各种器官中，包括肝脏,肺，软组织和骨骼。还观察到最初的多器官受累。肿瘤的生物学行为和预后根据主要表现部位有很大差异。从治疗的角度来看，在选定的情况下，可能会考虑初始主动监测，尽管手术干预仍然是治疗的主要手段，尤其是局部单器官受累。对患有进行性不可切除肿瘤的患者进行化疗。EHE融合基因的生物学分析的最新进展已经阐明了它们的多种功能。此外,下一代测序有助于鉴定融合基因以外的其他突变.这些理解融合基因本身的生物学和/或融合基因的信号传导失调的持续努力有望导致EHE的新治疗策略的开发。本文旨在提供对EHE的全面回顾，涵盖了它的历史背景，临床表现，分子生物学和目前的治疗状态。
