泡状瘤、泡状癌和相关附属皮肤肿瘤中的基因融合:研究进展简介。
Gene fusions in poroma, porocarcinoma and related adnexal skin tumours: An update.
发表日期:2023 Aug 23
作者:
Thibault Kervarrec, Daniel Pissaloux, Franck Tirode, Arnaud de la Fouchardière, Pierre Sohier, Eric Frouin, Aymeric Hamard, Roland Houben, David Schrama, Anne Barlier, Bernard Cribier, Maxime Battistella, Nicolas Macagno
来源:
HISTOPATHOLOGY
摘要:
汗腺良性肿瘤汗管瘤(Poroma)表现出回顾性表征深而不深的外汗螺旋的形态特征。Poroma的一部分可能转化为恶性对应物Porocarcinoma。Poroma和Porocarcinoma的特点是频繁发生涉及YAP1的重复基因融合,YAP1是一个由Hippo信号通路调控的转录共激活因子。这些融合基因经常涉及MAML2和NUTM1,它们在其他皮肤和非皮肤肿瘤中也发生了重排。本文旨在概述该类附属肿瘤的临床、形态和分子特征,特别关注新兴鉴别诊断方面,并讨论其系统分子特征表征如何有助于诊断的标准化、更准确的分类以及最终其预后和治疗模式的改进。©2023 The Authors. Histopathology由John Wiley & Sons Ltd.出版。
Poroma is a benign sweat gland tumour showing morphological features recapitulating the superficial portion of the eccrine sweat coil. A subset of poromas may transform into porocarcinoma, its malignant counterpart. Poroma and porocarcinoma are characterised by recurrent gene fusions involving YAP1, a transcriptional co-activator, which is controlled by the Hippo signalling pathway. The fusion genes frequently involve MAML2 and NUTM1, which are also rearranged in other cutaneous and extracutaneous neoplasms. We aimed to review the clinical, morphological and molecular features of this category of adnexal neoplasms with a special focus upon emerging differential diagnoses, and discuss how their systematic molecular characterisation may contribute to a standardisation of diagnosis, more accurate classification and, ultimately, refinement of their prognosis and therapeutic modalities.© 2023 The Authors. Histopathology published by John Wiley & Sons Ltd.