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Renal cell carcinoma in young FH mutation carriers: case series and review of the literature

2 Dec 2019

Abstract excerpt

Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC) is an autosomal dominant syndrome caused by heterozygous pathogenic germline variants in the fumarate hydratase (FH) gene. It is characterized by cutaneous and uterine leiomyomas and an increased risk of developing renal cell carcinoma (RCC), which is usually adult-onset. HLRCC-related RCC tends to be aggressive and can metastasize even when the primary...

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PMID: 31792767
DOI: 10.1007/s10689-019-00155-3

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