[Cutaneous adnexal tumours: Development and synthesis of diagnostic fusion genes].

IF 0.5 4区 医学 Q4 PATHOLOGY
Thibault Kervarrec, Maxime Battistella, Nicolas Macagno
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引用次数: 0

Abstract

Cutaneous adnexal tumours are a heterogeneous group of epithelial lesions that includes tumours with follicular, sudoral and/or sebaceous differentiation, or even several combined lines of differentiation. Over the last few years, molecular analysis of these lesions has allowed to identify specific molecular events responsible for tumour development in an increasing number of tumour types. Like other rare neoplasms, such as soft tissue tumours, adnexal tumours display fusion genes resulting from chromosomal translocations that may be specific for the diagnosis if molecular data are properly integrated in the clinical and morphological setting. Molecular testing of adnexal tumours is valuable as it allows to strengthen the robustness of the diagnosis for a group of tumours displaying a wide morphological spectrum. It has allowed to refine the diagnostic criteria and to develop increasingly specific diagnostic immunostainings. Finally, molecular testing has been responsible for the identification of new entities or morphological subtypes of previously known entities. The aim of this review is to provide an update on cutaneous adnexal tumours associated with fusion genes and to evaluate the impact of molecular data on the diagnosis of these lesions.

[皮肤附件肿瘤:诊断性融合基因的开发与合成]。
皮肤附件肿瘤是一类异质性上皮病变,包括具有滤泡、窦道和/或皮脂腺分化的肿瘤,甚至是几种联合分化的肿瘤。在过去的几年中,对这些病变的分子分析已经能够确定在越来越多的肿瘤类型中导致肿瘤发生的特定分子事件。与其他罕见肿瘤(如软组织肿瘤)一样,附件肿瘤也会出现染色体易位导致的融合基因,如果能将分子数据与临床和形态学环境进行适当整合,就能对其进行特异性诊断。附件肿瘤的分子检测很有价值,因为它可以加强对一组形态谱很广的肿瘤的诊断。它有助于完善诊断标准,并开发出更具特异性的诊断免疫染色。最后,分子检测有助于确定新的实体或以前已知实体的形态亚型。本综述旨在提供与融合基因相关的皮肤附件肿瘤的最新情况,并评估分子数据对这些病变诊断的影响。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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来源期刊
Annales De Pathologie
Annales De Pathologie 医学-病理学
CiteScore
0.40
自引率
20.00%
发文量
111
审稿时长
6-12 weeks
期刊介绍: Les Annales de pathologie vous permettent d''enrichir vos connaissances et de découvrir les évolutions des recherches au travers d''articles originaux, de mises au point, de cas anatomo-cliniques et de lettres à la rédaction rédigés par les meilleurs spécialistes. Les Annales de pathologie vous proposent de nombreuses illustrations couleur de qualité, qui améliorent la compréhension des articles et renforcent vos compétences diagnostiques. Les Annales de pathologie sont le lieu de rencontre privilégié de la discipline, où sont publiés des comptes-rendus de journées scientifiques, les informations concernant les EPU et les fonds de recherche et des annonces de réunions diverses.
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