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：

CREM; EWSR1; EWSR1::CREM 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.

引用

页数：5

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[45] Unilateral Malignant Leydig Cell Tumor of Testis in a Patient With Contralateral Cryptorchidism [J].

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[46] Leydig cell tumor in a patient with 49,XXXXY karyotype: a review of literature [J].

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[48] Leydig cell tumor in an elderly patient with complete androgen insensitivity syndrome [J].

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[50] Leydig cell tumor in a patient with 49,XXXXY karyotype: a review of literature [J].

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