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Whole genome sequencing to identify novel germline fumarate hydratase mutation in child with bilateral renal cell carcinoma

Kershaw, C.
; 
Demain, L.
; 
Baker, E.
; 
Burghel, G.
; 
Durkie, M.
; 
Forde, C.
; 
Makin, G.
; 
Cheesman, E.
; 
Warren, A.
; 
Gokhale, D.
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Abstract
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.
Authors
Kershaw, C.
Demain, L.
Baker, E.
Burghel, G.
Durkie, M.
Forde, C.
Makin, G.
Cheesman, E.
Warren, A.
Gokhale, D.
Schlecht, H.
Maher, E.
Oliveira, P.
Woodward, E.
Affiliation
Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester, UK. Faculty of Biology Medicine and Health, University of Manchester, Manchester, UK. Sheffield Diagnostics Genetic Service, Sheffield Children's NHS Foundation Trust, Sheffield, UK. Department of Paediatric Oncology, Royal Manchester Children's Hospital, Manchester, UK. Department of Paediatric Histopathology, Royal Manchester Children's Hospital, Manchester, UK. Department of Histopathology, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK. Aston Medical School, Aston University, Birmingham, UK and Department of Medical Genetics, University of Cambridge and Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK. Department of Pathology, The Christie NHS Foundation Trusts, Manchester, UK.
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Date
2025
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All Christie Publications
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Article
Citation
Kershaw C, Demain L, Baker E, Burghel G, Durkie M, Forde C, et al. Whole Genome Sequencing to Identify Novel Germline Fumarate Hydratase Mutation in Child With Bilateral Renal Cell Carcinoma. Clin Genet. 2025 Jun;107(6):702-4. PubMed PMID: 39904744. Epub 2025/02/05. eng.
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https://christie.openrepository.com/handle/10541/628252
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