Rare variant in the fumarate hydratase gene found in patients with clinical features of hereditary leiomyomatosis and renal cell cancer (HLRCC): A case series

Hereditary leiomyomatosis and renal cell cancer (HLRCC) is an inherited cancer predisposition syndrome caused by autosomal dominant heterozygous pathogenic variants in the fumarate hydratase (FH) gene. FH pathogenic variant carriers are at an increased risk for cutaneous leiomyomas, renal cell cance...

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Bibliographic Details
Published in:Clinical case reports 2022-03, Vol.10 (3), p.e05513-n/a
Main Authors: Franke, Keith, Vagher, Jennie, Boyle, Julie, Hall, April, Smith‐Simmer, Kelcy
Format: Article
Language:English
Subjects:
Age
Biopsy
Case Report
Case Reports
Enzymes
Family medical history
Fibroids
Genetic counseling
HLRCC
Hysterectomy
Kidney cancer
leiomyomatosis
Medical screening
Mutation
Patients
Population
renal cancer
Surveillance
Testing laboratories
Ultrasonic imaging
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Summary:Hereditary leiomyomatosis and renal cell cancer (HLRCC) is an inherited cancer predisposition syndrome caused by autosomal dominant heterozygous pathogenic variants in the fumarate hydratase (FH) gene. FH pathogenic variant carriers are at an increased risk for cutaneous leiomyomas, renal cell cancer, and uterine fibroids. We present a case series of patients identified at two different medical institutions with clinically diagnostic features of HLRCC and a shared rare variant in the FH gene.
ISSN:2050-0904
2050-0904
DOI:10.1002/ccr3.5513