<i>EWSR1::CREM</i> Fusion in a Pediatric Patient With Testicular Leydig Cell Tumor

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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Publication Details

Journal
Genes Chromosomes and Cancer
Published
2025-03-01
DOI
https://doi.org/10.1002/gcc.70038
Citations
1
Primary Topic
Testicular diseases and treatments
Type
article
Field-Weighted Citation Impact
2.01

Funders

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article

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

Patrick R. Blackburn, Alberto S. Pappo, Megan M. Lilley, Selene C. Koo et al.
1 citations
Genes Chromosomes and Cancer
Testicular diseases and treatments
2.01
article

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

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

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.

Genes Chromosomes and CancerVol. 64(3)
St. Jude Children's Research Hospital (US)
American Lebanese Syrian Associated Charities
Good health and well-being
Openalex Percentile: Top 18%
Testicular diseases and treatments
2.01
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