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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Detalles Bibliográficos
Autores principales: Franke, Keith, Vagher, Jennie, Boyle, Julie, Hall, April, Smith‐Simmer, Kelcy
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8886725/
https://www.ncbi.nlm.nih.gov/pubmed/35251648
http://dx.doi.org/10.1002/ccr3.5513
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author Franke, Keith
Vagher, Jennie
Boyle, Julie
Hall, April
Smith‐Simmer, Kelcy
author_facet Franke, Keith
Vagher, Jennie
Boyle, Julie
Hall, April
Smith‐Simmer, Kelcy
author_sort Franke, Keith
collection PubMed
description 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.
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spelling pubmed-88867252022-03-04 Rare variant in the fumarate hydratase gene found in patients with clinical features of hereditary leiomyomatosis and renal cell cancer (HLRCC): A case series Franke, Keith Vagher, Jennie Boyle, Julie Hall, April Smith‐Simmer, Kelcy Clin Case Rep Case Reports 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. John Wiley and Sons Inc. 2022-03-01 /pmc/articles/PMC8886725/ /pubmed/35251648 http://dx.doi.org/10.1002/ccr3.5513 Text en © 2022 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. https://creativecommons.org/licenses/by-nc-nd/4.0/This is an open access article under the terms of the http://creativecommons.org/licenses/by-nc-nd/4.0/ (https://creativecommons.org/licenses/by-nc-nd/4.0/) License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non‐commercial and no modifications or adaptations are made.
spellingShingle Case Reports
Franke, Keith
Vagher, Jennie
Boyle, Julie
Hall, April
Smith‐Simmer, Kelcy
Rare variant in the fumarate hydratase gene found in patients with clinical features of hereditary leiomyomatosis and renal cell cancer (HLRCC): A case series
title Rare variant in the fumarate hydratase gene found in patients with clinical features of hereditary leiomyomatosis and renal cell cancer (HLRCC): A case series
title_full Rare variant in the fumarate hydratase gene found in patients with clinical features of hereditary leiomyomatosis and renal cell cancer (HLRCC): A case series
title_fullStr Rare variant in the fumarate hydratase gene found in patients with clinical features of hereditary leiomyomatosis and renal cell cancer (HLRCC): A case series
title_full_unstemmed Rare variant in the fumarate hydratase gene found in patients with clinical features of hereditary leiomyomatosis and renal cell cancer (HLRCC): A case series
title_short Rare variant in the fumarate hydratase gene found in patients with clinical features of hereditary leiomyomatosis and renal cell cancer (HLRCC): A case series
title_sort rare variant in the fumarate hydratase gene found in patients with clinical features of hereditary leiomyomatosis and renal cell cancer (hlrcc): a case series
topic Case Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8886725/
https://www.ncbi.nlm.nih.gov/pubmed/35251648
http://dx.doi.org/10.1002/ccr3.5513
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