一名患有睾丸间质细胞瘤的儿科患者中的EWSR1::CREM融合

EWSR1::CREM Fusion in a Pediatric Patient With Testicular Leydig Cell Tumor.

作者信息

Lilley Megan M, Blackburn Patrick R, Furtado Larissa V, Pappo Alberto S, Koo Selene C

机构信息

Department of Oncology, St. Jude Children's Research Hospital, Memphis, Tennessee, USA.

Department of Pathology, St. Jude Children's Research Hospital, Memphis, Tennessee, USA.

出版信息

Genes Chromosomes Cancer. 2025 Mar;64(3):e70038. doi: 10.1002/gcc.70038.

DOI:10.1002/gcc.70038

PMID:40072299

Abstract

Sex cord-stromal tumors are rare in pediatric patients. Leydig cell tumors are a rare subset of sex cord-stromal tumors characterized by unique molecular alterations, including TERT fusions and mutations of CTNNB1, FOXO4, TP53, NBN, MTOR, BAP1, MEN1, and CREBBP. We report a case of a testicular Leydig cell tumor with an EWSR1::CREM fusion, which to our knowledge has not been previously reported in this setting.

摘要

性索间质肿瘤在儿科患者中较为罕见。睾丸间质细胞瘤是性索间质肿瘤中罕见的一个亚型，其特征是具有独特的分子改变，包括端粒酶逆转录酶（TERT）融合以及β-连环蛋白1（CTNNB1）、叉头框蛋白O4（FOXO4）、肿瘤蛋白p53（TP53）、Nibrin（NBN）、哺乳动物雷帕霉素靶蛋白（MTOR）、BRCA1相关蛋白1（BAP1）、多发性内分泌肿瘤1型（MEN1）和环磷腺苷效应元件结合蛋白（CREBBP）的突变。我们报告了一例伴有尤文肉瘤 breakpoint region 1（EWSR1）:: 肌细胞增强因子2C（CREM）融合的睾丸间质细胞瘤病例，据我们所知，此前在这种情况下尚未有过相关报道。