Trichogerminoma with malignant transformation.

IF 3.4 3区医学 Q1 PATHOLOGY

Virchows Archiv Pub Date : 2025-01-24 DOI:10.1007/s00428-025-04032-6

Thibault Kervarrec, Maxence Mancini, Anne Tallet, Samia Mourah, Maxime Battistella, Eric Frouin

引用次数: 0

Abstract

Trichogerminoma (TG) is a rare adnexal tumor with hair follicle differentiation with less than 50 cases reported in the literature. In 2022, by investigating the genetic profile of 21 cases, our group identified recurrent rearrangements of the GRHL1/2/3 genes in this tumor entity, suggesting such alteration as the main oncogenic driver in TG. Up to now, only one TG case of malignant transformation has been reported. In the present letter, we report a second case of TG with malignant transformation and provide molecular characterization of this tumor.

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三毛细胞瘤（TG）是一种罕见的具有毛囊分化的附件肿瘤，文献报道不足50例。2022 年，通过对 21 例病例的基因谱进行研究，我们的研究小组在该肿瘤实体中发现了 GRHL1/2/3 基因的复发性重排，这表明 GRHL1/2/3 基因的改变是 TG 的主要致癌驱动因素。迄今为止，仅有一例 TG 恶性转化的报道。在这封信中，我们报告了第二例恶性转化的 TG 病例，并提供了该肿瘤的分子特征。

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

Virchows Archiv 医学-病理学

CiteScore

7.40

自引率

2.90%

发文量

204

审稿时长

4-8 weeks

期刊介绍： Manuscripts of original studies reinforcing the evidence base of modern diagnostic pathology, using immunocytochemical, molecular and ultrastructural techniques, will be welcomed. In addition, papers on critical evaluation of diagnostic criteria but also broadsheets and guidelines with a solid evidence base will be considered. Consideration will also be given to reports of work in other fields relevant to the understanding of human pathology as well as manuscripts on the application of new methods and techniques in pathology. Submission of purely experimental articles is discouraged but manuscripts on experimental work applicable to diagnostic pathology are welcomed. Biomarker studies are welcomed but need to abide by strict rules (e.g. REMARK) of adequate sample size and relevant marker choice. Single marker studies on limited patient series without validated application will as a rule not be considered. Case reports will only be considered when they provide substantial new information with an impact on understanding disease or diagnostic practice.