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

被引：0
|
作者：
Lilley, Megan M. [1 ]
Blackburn, Patrick R. [2 ]
Furtado, Larissa V. [2 ]
Pappo, Alberto S. [1 ]
Koo, Selene C. [2 ]
机构：
[1] St Jude Childrens Res Hosp, Dept Oncol, Memphis, TN USA
[2] St Jude Childrens Res Hosp, Dept Pathol, Memphis, TN 38105 USA
来源：
GENES CHROMOSOMES & CANCER | 2025年 / 64卷 / 03期
关键词：
<italic>CREM</italic>; <italic>EWSR1</italic>; <italic>EWSR1::CREM</italic> fusion; Leydig cell tumor; pediatric; sex cord-stromal tumor; testicle; STRUCTURAL-VARIATION; GENE FUSION; MELANOMA; SUBSET;
D O I：
10.1002/gcc.70038
中图分类号：
R73 [肿瘤学];
学科分类号：
100214 ;
摘要：
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.
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页数：5
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