EWSR1::CREM融合治疗小儿睾丸间质细胞瘤

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

{"title":"EWSR1::CREM融合治疗小儿睾丸间质细胞瘤","authors":"Megan M. Lilley, Patrick R. Blackburn, Larissa V. Furtado, Alberto S. Pappo, Selene C. Koo","doi":"10.1002/gcc.70038","DOIUrl":null,"url":null,"abstract":"<div>\n \n 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.\n </div>","PeriodicalId":12700,"journal":{"name":"Genes, Chromosomes & Cancer","volume":"64 3","pages":""},"PeriodicalIF":3.1000,"publicationDate":"2025-03-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"EWSR1::CREM Fusion in a Pediatric Patient With Testicular Leydig Cell Tumor\",\"authors\":\"Megan M. Lilley, Patrick R. Blackburn, Larissa V. Furtado, Alberto S. Pappo, Selene C. Koo\",\"doi\":\"10.1002/gcc.70038\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<div>\\n \\n 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.\\n </div>\",\"PeriodicalId\":12700,\"journal\":{\"name\":\"Genes, Chromosomes & Cancer\",\"volume\":\"64 3\",\"pages\":\"\"},\"PeriodicalIF\":3.1000,\"publicationDate\":\"2025-03-12\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Genes, Chromosomes & Cancer\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://onlinelibrary.wiley.com/doi/10.1002/gcc.70038\",\"RegionNum\":2,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q2\",\"JCRName\":\"GENETICS & HEREDITY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Genes, Chromosomes & Cancer","FirstCategoryId":"3","ListUrlMain":"https://onlinelibrary.wiley.com/doi/10.1002/gcc.70038","RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"GENETICS & HEREDITY","Score":null,"Total":0}

引用次数: 0

摘要

性索间质瘤在儿科患者中是罕见的。间质细胞肿瘤是一种罕见的性索间质肿瘤，其特征是独特的分子改变，包括TERT融合和CTNNB1、FOXO4、TP53、NBN、MTOR、BAP1、MEN1和CREBBP的突变。我们报告一例伴有EWSR1::CREM融合的睾丸间质细胞肿瘤，据我们所知，这在这方面以前没有报道过。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

查看原文本刊更多论文

EWSR1::CREM 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.

求助全文

通过发布文献求助，成功后即可免费获取论文全文。去求助

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.