A novel pathogenic variant of the FH gene in a family with hereditary leiomyomatosis and renal cell carcinoma

Hereditary leiomyomatosis and renal cell carcinoma caused by loss-of-function germline variants of the FH gene can develop into aggressive renal cell carcinoma (RCC). We report the case of a 27-year-old man who died of RCC. Genetic testing revealed a novel pathogenic variant of FH, NM_000143.3:c.101...

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Detalles Bibliográficos
Autores principales: Yagi, Yasuto, Abeto, Naoko, Shiraishi, Junichi, Miyata, Chieko, Inoue, Satomi, Murakami, Haruka, Nakashima, Moeko, Sugano, Kokichi, Ushiama, Mineko, Yoshida, Teruhiko, Yamazawa, Kazuki
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2022
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8761746/
https://www.ncbi.nlm.nih.gov/pubmed/35034951
http://dx.doi.org/10.1038/s41439-021-00180-8
Descripción
Sumario:Hereditary leiomyomatosis and renal cell carcinoma caused by loss-of-function germline variants of the FH gene can develop into aggressive renal cell carcinoma (RCC). We report the case of a 27-year-old man who died of RCC. Genetic testing revealed a novel pathogenic variant of FH, NM_000143.3:c.1013_1014del (p.Ile338Serfs*3), that was also identified in healthy siblings. Identification of genetic causes in the proband helped us to provide relatives with precise genetic counseling and appropriate surveillance programs.

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