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.
Authors
- Claire Forde (ORCID: https://orcid.org/0000-0001-8035-4471)
- Emma R. Woodward (ORCID: https://orcid.org/0000-0002-6297-2855)
- Anne Y. Warren (ORCID: https://orcid.org/0000-0002-1170-7867)
- Leigh Demain (ORCID: https://orcid.org/0000-0001-8694-7710)
- Eamonn R. Maher (ORCID: https://orcid.org/0000-0002-6226-6918)
- George J. Burghel (ORCID: https://orcid.org/0000-0001-9360-8194)
- Eleanor Baker (ORCID: https://orcid.org/0000-0002-5406-1170)
- Miranda Durkie (ORCID: https://orcid.org/0000-0001-7071-7048)
- Guy Makin
- Edmund Cheesman (ORCID: https://orcid.org/0000-0003-4742-388X)
- Hélene Schlecht (ORCID: https://orcid.org/0000-0002-1916-6575)
- Christopher J. Kershaw (ORCID: https://orcid.org/0000-0001-6625-7894)
- Pedro Oliveira (ORCID: https://orcid.org/0000-0001-8912-2490)
- David Gokhale
Institutions
- Aston University (GB)
- University of Cambridge (GB)
- Manchester Academic Health Science Centre (GB)
- Cambridge University Hospitals NHS Foundation Trust (GB)
- University of Manchester (GB)
- Manchester University NHS Foundation Trust (GB)
- Sheffield Children's NHS Foundation Trust (GB)
- The Christie NHS Foundation Trust (GB)
- Royal Manchester Children's Hospital (GB)
Publication Details
- Journal
- Clinical Genetics
- Published
- 2025-02-04
- DOI
- https://doi.org/10.1111/cge.14723
- Citations
- 1
- Primary Topic
- Renal cell carcinoma treatment
- Type
- article
- Field-Weighted Citation Impact
- 1.52
Funders
- Manchester Biomedical Research Centre