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Whole Genome Sequencing to Identify Novel Germline Fumarate Hydratase Mutation in Child With Bilateral Renal Cell
Christopher Kershaw1, Leigh Demain1, Eleanor Baker1
1Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester, UK.
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.
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