全基因组测序鉴定双侧肾细胞癌儿童富马酸水合酶突变。

IF 2.3 3区医学 Q2 GENETICS & HEREDITY Clinical Genetics Pub Date : 2025-02-04 DOI:10.1111/cge.14723

Christopher Kershaw, Leigh Demain, Eleanor Baker, George Burghel, Miranda Durkie, Claire Forde, Guy Makin, Edmund Cheesman, Anne Warren, David Gokhale, Helene Schlecht, Eamonn Maher, Pedro Oliveira, Emma Woodward

{"title":"全基因组测序鉴定双侧肾细胞癌儿童富马酸水合酶突变。","authors":"Christopher Kershaw, Leigh Demain, Eleanor Baker, George Burghel, Miranda Durkie, Claire Forde, Guy Makin, Edmund Cheesman, Anne Warren, David Gokhale, Helene Schlecht, Eamonn Maher, Pedro Oliveira, Emma Woodward","doi":"10.1111/cge.14723","DOIUrl":null,"url":null,"abstract":"<p>An 11-year-old presented with bilateral renal cell carcinoma (RCC) with FH-deficient RCC confirmed by immunohistochemistry. WGS confirmed no coding variants but identified a rare intronic variant in <i>FH</i> (c.1391-269A>G). We illustrate how combined pathological and genomic investigations enabled a precise diagnosis of the underlying cause of an ultra-rare clinical presentation.\n <figure>\n <div><picture>\n <source></source></picture><p></p>\n </div>\n </figure>\n </p>","PeriodicalId":10354,"journal":{"name":"Clinical Genetics","volume":"107 6","pages":"702-704"},"PeriodicalIF":2.3000,"publicationDate":"2025-02-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Whole Genome Sequencing to Identify Novel Germline Fumarate Hydratase Mutation in Child With Bilateral Renal Cell Carcinoma\",\"authors\":\"Christopher Kershaw, Leigh Demain, Eleanor Baker, George Burghel, Miranda Durkie, Claire Forde, Guy Makin, Edmund Cheesman, Anne Warren, David Gokhale, Helene Schlecht, Eamonn Maher, Pedro Oliveira, Emma Woodward\",\"doi\":\"10.1111/cge.14723\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p>An 11-year-old presented with bilateral renal cell carcinoma (RCC) with FH-deficient RCC confirmed by immunohistochemistry. WGS confirmed no coding variants but identified a rare intronic variant in <i>FH</i> (c.1391-269A>G). We illustrate how combined pathological and genomic investigations enabled a precise diagnosis of the underlying cause of an ultra-rare clinical presentation.\\n <figure>\\n <div><picture>\\n <source></source></picture><p></p>\\n </div>\\n </figure>\\n </p>\",\"PeriodicalId\":10354,\"journal\":{\"name\":\"Clinical Genetics\",\"volume\":\"107 6\",\"pages\":\"702-704\"},\"PeriodicalIF\":2.3000,\"publicationDate\":\"2025-02-04\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Clinical Genetics\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://onlinelibrary.wiley.com/doi/10.1111/cge.14723\",\"RegionNum\":3,\"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":"Clinical Genetics","FirstCategoryId":"3","ListUrlMain":"https://onlinelibrary.wiley.com/doi/10.1111/cge.14723","RegionNum":3,"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

一名11岁儿童，经免疫组织化学证实为双侧肾细胞癌（RCC）伴fh缺陷。WGS证实没有编码变异，但在FH （c.1391-269A>G）中发现了罕见的内含子变异。我们说明如何结合病理和基因组调查使一个超罕见的临床表现的根本原因的精确诊断。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

摘要图片

查看原文

微信好友朋友圈 QQ好友复制链接

本刊更多论文

Whole Genome Sequencing to Identify Novel Germline Fumarate Hydratase Mutation in Child With Bilateral Renal Cell Carcinoma

An 11-year-old presented with bilateral renal cell carcinoma (RCC) with FH-deficient RCC confirmed by immunohistochemistry. WGS confirmed no coding variants but identified a rare intronic variant in FH (c.1391-269A>G). We illustrate how combined pathological and genomic investigations enabled a precise diagnosis of the underlying cause of an ultra-rare clinical presentation.

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

Clinical Genetics 医学-遗传学

CiteScore

6.50

自引率

0.00%

发文量

175

审稿时长

3-8 weeks

期刊介绍： Clinical Genetics links research to the clinic, translating advances in our understanding of the molecular basis of genetic disease for the practising clinical geneticist. The journal publishes high quality research papers, short reports, reviews and mini-reviews that connect medical genetics research with clinical practice. Topics of particular interest are: • Linking genetic variations to disease • Genome rearrangements and disease • Epigenetics and disease • The translation of genotype to phenotype • Genetics of complex disease • Management/intervention of genetic diseases • Novel therapies for genetic diseases • Developmental biology, as it relates to clinical genetics • Social science research on the psychological and behavioural aspects of living with or being at risk of genetic disease