Kervarrec Thibault, Mancini Maxence, Tallet Anne, Mourah Samia, Battistella Maxime, Frouin Eric
Department of Pathology, Université de Tours, Centre Hospitalier Universitaire de Tours, 37044, Tours, France.
CARADERM Network, Tours, France.
Virchows Arch. 2025 Jan 24. doi: 10.1007/s00428-025-04032-6.
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.
毛囊瘤（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，我们团队在该肿瘤实体中发现了GRHL1/2/3基因的复发性重排，提示这种改变是TG的主要致癌驱动因素。到目前为止，仅报道过1例毛囊瘤发生恶性转化的病例。在本信函中，我们报告了第2例发生恶性转化的毛囊瘤病例，并提供了该肿瘤的分子特征。
