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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.

DOI:10.1097/DAD.0000000000002647
PMID:38457669
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10947873/
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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本文引用的文献

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A cutaneous epithelioid vascular tumor harboring a TPM3::ALK fusion.一种具有 TPM3::ALK 融合的皮肤上皮样血管肿瘤。
Genes Chromosomes Cancer. 2024 Jan;63(1):e23207. doi: 10.1002/gcc.23207. Epub 2023 Oct 3.
2
Myoepithelioma-like hyalinizing epithelioid tumor of the foot with OGT-FOX03 fusion gene: Imaging findings, surgical implications, and pathological correlates.足部伴有OGT-FOX03融合基因的肌上皮瘤样透明化上皮样肿瘤:影像学表现、手术意义及病理相关性
Radiol Case Rep. 2022 Dec 25;18(3):926-931. doi: 10.1016/j.radcr.2022.12.014. eCollection 2023 Mar.
3
Immunohistochemistry for FOSB and FOS is a Useful Ancillary Tool in the Diagnosis of Epithelioid Hemangioma but There are Pitfalls in Interpretation Including Expression in Other Vascular Lesions.
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Int J Surg Pathol. 2023 May;31(3):280-288. doi: 10.1177/10668969221101867. Epub 2022 May 29.
4
Rhabdomyosarcoma With Epithelioid Features And Fusion: Evidence For Reconsideration Of Previously Reported Fusion.具有上皮样特征和融合的横纹肌肉瘤:重新考虑先前报道的融合的证据
Int J Surg Pathol. 2023 Apr;31(2):213-220. doi: 10.1177/10668969221098084. Epub 2022 May 3.
5
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6
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7
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