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

Clinical genetics - 1 Jun 2025

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

Abstract excerpt

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.

Topics

Child
Humans
Carcinoma, Renal Cell
Fumarate Hydratase
Genetic Predisposition to Disease
Germ-Line Mutation
Kidney Neoplasms
Whole Genome Sequencing

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 39904744
DOI: 10.1111/cge.14723

Genes

FH

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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