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

IF 3.1 2区医学 Q2 GENETICS & HEREDITY

Genes, Chromosomes & Cancer Pub Date : 2025-03-12 DOI:10.1002/gcc.70038

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

引用次数: 0

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.

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来源期刊

Genes, Chromosomes & Cancer 医学-遗传学

CiteScore

7.00

自引率

8.10%

发文量

审稿时长

4-8 weeks

期刊介绍： Genes, Chromosomes & Cancer will offer rapid publication of original full-length research articles, perspectives, reviews and letters to the editors on genetic analysis as related to the study of neoplasia. The main scope of the journal is to communicate new insights into the etiology and/or pathogenesis of neoplasia, as well as molecular and cellular findings of relevance for the management of cancer patients. While preference will be given to research utilizing analytical and functional approaches, descriptive studies and case reports will also be welcomed when they offer insights regarding basic biological mechanisms or the clinical management of neoplastic disorders.