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细胞皮肤上皮样血管内皮瘤中存在罕见的 GATA6::FOXO1 基因融合。

Cellular Cutaneous Epithelioid Hemangioma Harboring the Rare GATA6::FOXO1 Gene Fusion.

机构信息

Department of Pathology and Cell Biology, Columbia University Irving Medical Center, New York, NY; and.

Department of Pathology & Laboratory Medicine, Memorial Sloan Kettering Cancer Center, New York, NY.

出版信息

Am J Dermatopathol. 2024 Apr 1;46(4):223-227. doi: 10.1097/DAD.0000000000002647.

Abstract

Epithelioid hemangioma (EH) is a benign vascular tumor displaying diverse histomorphologies. Among these, one EH subtype comprises cellular sheets of atypical epithelioid cells, posing potential challenges in distinguishing it from malignant vascular lesions. In this case report, we present a cutaneous cellular EH that carries the rare GATA6::FOXO1 gene fusion, a recent discovery. Our aim is to provide an updated insight into the evolving knowledge of EHs while delving into the histologic and molecular characteristics of the primary differential diagnoses.

摘要

上皮样血管内皮细胞瘤(EH)是一种良性血管肿瘤,具有多种组织形态学特征。其中,有一种亚型由非典型上皮样细胞的细胞片层组成,这在鉴别其与恶性血管病变时带来了一定的挑战。在本病例报告中,我们呈现了一例罕见的 GATA6::FOXO1 基因融合的皮肤细胞型 EH,这是最近的一项发现。我们的目的是在深入探讨主要鉴别诊断的组织学和分子特征的同时,为 EH 的不断发展的知识提供一个更新的视角。

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