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Diagnostic pathways traditionally rely on clinical features, radiology, and histology, while molecular testing has a constrained role. Using paired tumour and germline whole genome sequencing for five patients, the study shows molecular evidence refining tumour classification and identifying cancer predisposition, enabling more accurate diagnosis, improved risk assessment, and earlier detection.",{"@graph":69,"@context":122},[70,84,105],{"@type":71,"itemListElement":72},"BreadcrumbList",[73,77,79,82],{"item":74,"name":75,"@type":76,"position":8},"https://docshare.wps.com","Home","ListItem",{"item":78,"name":9,"@type":76,"position":14},"https://docshare.wps.com/document/",{"item":80,"name":40,"@type":76,"position":81},"https://docshare.wps.com/document/research-report/",3,{"item":83,"name":65,"@type":76,"position":19},"https://docshare.wps.com/document/improving-the-diagnosis-of-renal-tumours-of-young-people-through-integrated-molecular-analysis/352687/",{"url":83,"name":65,"@type":85,"image":86,"author":91,"headline":65,"publisher":94,"fileFormat":97,"inLanguage":63,"description":67,"dateModified":98,"datePublished":99,"encodingFormat":97,"isAccessibleForFree":100,"interactionStatistic":101},"DigitalDocument",{"url":87,"@type":88,"width":89,"height":90},"https://docshare.wps.com/thumbnails/improving-the-diagnosis-of-renal-tumours-of-young-people-through-integrated-molecular-analysis/352687.png","ImageObject",300,407,{"name":92,"@type":93},"Sophia Brooks","Person",{"url":74,"name":95,"@type":96},"DocShare","Organization","application/pdf","2026-09-25","2026-09-22",true,{"@type":102,"interactionType":103,"userInteractionCount":14},"InteractionCounter",{"@type":104},"ViewAction",{"@type":106,"mainEntity":107},"FAQPage",[108,114,118],{"name":109,"@type":110,"acceptedAnswer":111},"Why is integrated molecular analysis relevant for young patients with renal tumours?","Question",{"text":112,"@type":113},"Renal tumour diagnosis traditionally depends on clinical features, radiology, and histology, which can leave uncertainty, especially regarding tumour type and underlying predisposition. Integrated molecular analysis, particularly whole genome sequencing, helps confirm diagnosis and uncover cancer predisposition syndromes.","Answer",{"name":115,"@type":110,"acceptedAnswer":116},"What sequencing strategy was used in the reported cases?",{"text":117,"@type":113},"The work reports paired tumour and germline whole genome sequencing (WGS) performed as part of routine diagnostic work-up at a single regional centre in England.",{"name":119,"@type":110,"acceptedAnswer":120},"How did whole genome sequencing change diagnosis or management in the cases described?",{"text":121,"@type":113},"In the reported examples, WGS confirmed Wilms tumour despite histology raising RCC concerns, revealed a novel ERC1-CCNY fusion in a difficult-to-classify tumour, identified agnostic WGS-based predisposition syndromes, and enabled early detection of a REST deletion associated with a Wilms tumour context.","https://schema.org",{"og:url":83,"og:type":124,"og:title":65,"og:site_name":95,"og:description":67},"article",{"robots":126,"canonical":83},"index,follow",{"doc_id":128,"site_id":62},352687,1790340852,{"code":4,"msg":5,"data":131},{"doc_id":128,"user_id":132,"nickname":92,"user_avatar":133,"doc_module":4,"category_id":39,"category_name":40,"doc_title":65,"doc_description":67,"doc_content":134,"file_id":135,"file_url":136,"file_type":137,"file_size":138,"view_count":14,"is_deleted":4,"is_public":8,"is_downloadable":8,"audit_status":8,"page_count":139,"language":140,"language_code":63,"site_id":62,"html_lang":63,"table_of_contents":141,"faqs":142,"seo_title":143,"seo_description":67,"update_tm":144,"read_time":41},962084925636,"https://ap-avatar.wpscdn.com/davatar_994ba38a5ba835b3df7d355c54d3ed8d","Journal of Cancer Research and Clinical Oncology (2026) 152:81  \n[https://doi.org/10.1007/s00432-026-06455-3](https://doi.org/10.1007/s00432-026-06455-3)  \nCASE REPORT  \nImproving the diagnosis of renal tumours of young people through integrated molecular analysis  \nSarah M. Leiter1,2,19 · Aisosa O. Guobadia1 · Ben Fleming3 · Thankamma V. Ajithkumar4 · James N. Armitage5 ·  \nG. A. Amos Burke6,7 · Charlotte M. Burns1 · Nicholas Coleman8,9 · Helen Hatcher10 · Gail Horan4 · Anna-May Long11 · Sarah McDonald8 · Thomas J. Mitchell5,12 · James C. Nicholson1,2 · Thomas Roberts13 · Grant D. Stewart5,12,14 · John A. Tadross8,13,15 · Patrick S. Tarpey13 · Claire Trayers8 · Jamie Trotman13 · James A. Watkins8,13 · Anne Y. Warren8 · Gordan M. Vujanic16,17 · Ruth Armstrong18 · Sam Behjati1,2,19 · C. Elizabeth Hook8,9 · Matthew J. Murray1,9  \nReceived: 29 December 2025 / Accepted: 26 February 2026 © The Author(s) 2026  \nAbstract  \nBackground Renal tumours account for one in twenty paediatric cancers, with Wilms tumour (WT) the most common in young children and renal cell carcinoma (RCC) predominating in adolescents and young adults. Diagnostic work-up has traditionally focused on clinical features, radiology, and histology, with a limited role for molecular analysis. However, it is estimated that up to one-third of children with WT have underlying cancer predisposition, which could necessitate prolonged treatment and intensive follow-up.  \nMethods Here we describe five children and young adults treated at a single regional centre in England who had paired tumour and germline whole genome sequencing (WGS) as part of their routine diagnostic work-up.  \nResults One child diagnosed radiologically with a WT underwent pre-operative chemotherapy with good clinical and imaging response. Histological examination of the resection raised concerns over RCC; however, WGS was able to confirm that this was a WT with pathognomonic somatic WT changes. A young adult with upfront nephrectomy had a difficult-to-classify tumour; WGS revealed a novel ERC1-CCNY fusion as a likely novel driver event. Two further children, who did not meet clinical criteria for cancer predisposition testing, had predisposition syndromes identified via agnostic WGS. Finally, a child with piebaldism had a WT-associated REST deletion identified early through critical clinical thinking and expedited microarray.  \nConclusion We highlight that molecular analysis, particularly agnostic WGS, has a key routine role in the care of children with renal tumours. It is likely that outcomes for these young people have been improved through more accurate diagnosis and early detection of cancer predisposition.  \nKeywords Wilms tumour · Renal cell carcinoma · Whole genome sequencing · Cancer predisposition · Molecular analysis  \nIntroduction  \nRenal cancers account for approximately 5% of all childhood tumours, equating to around 1000 new cases in Europe per year (Pastore et al. 2006; Nakata et al. 2020) . Wilms tumours (WT) account for ~ 90% of these (Pastore et al. 2006; Nakata et al. 2020), with overall survival (OS) of  \nSarah M. Leiter and Aisosa O. Guobadia contributed equally to this work.  \nExtended author information available on the last page of the article  \n90% and 75% for those with localised and metastatic disease, respectively (Brok et al. 2018; Malogolowkin et al. 2013) . Historically, an estimated 10% of patients with WT were thought to have an underlying cancer predisposition syndrome. More recently, this has been projected to be as high as one in three (Hol et al. 2022), particularly in the presence of multiple nephrogenic rests, which are known  \n1 3  \nprecursor lesions for WT. Screening for predisposition syndromes has traditionally been limited to those children with nephrogenic rests and/or nephroblastomatosis (multifocal involvement of the kidneys with nephrogenic rests) and specific clinical features including young age of presentation, bilateral or multi-focal tumours, and h","cbCaioZln9hHSOkt","https://ap.wps.com/l/cbCaioZln9hHSOkt","pdf",1993527,12,"English","# Abstract\n# Background\n# Methods\n# Results\n# Conclusion\n# Keywords\n# Introduction","[{\"question\":\"Why is integrated molecular analysis relevant for young patients with renal tumours?\",\"answer\":\"Renal tumour diagnosis traditionally depends on clinical features, radiology, and histology, which can leave uncertainty, especially regarding tumour type and underlying predisposition. Integrated molecular analysis, particularly whole genome sequencing, helps confirm diagnosis and uncover cancer predisposition syndromes.\"},{\"question\":\"What sequencing strategy was used in the reported cases?\",\"answer\":\"The work reports paired tumour and germline whole genome sequencing (WGS) performed as part of routine diagnostic work-up at a single regional centre in England.\"},{\"question\":\"How did whole genome sequencing change diagnosis or management in the cases described?\",\"answer\":\"In the reported examples, WGS confirmed Wilms tumour despite histology raising RCC concerns, revealed a novel ERC1-CCNY fusion in a difficult-to-classify tumour, identified agnostic WGS-based predisposition syndromes, and enabled early detection of a REST deletion associated with a Wilms tumour context.\"}]","Improving the diagnosis of renal tumours of young people through integrated molecular analysis | PDF",1790100865]