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Title :Hereditary leiomyomatosis and renal cell cancer (HLRCC): A case report
Authors :Yonamine, Tomoko
Kaname, Tadashi
Chinen, Yasutsugu
Tamashiro, Kouichi
Kosuge, Noritake
Saito, Seiichi
Issue Date :May-2020
Abstract :Hereditary leiomyomatosis and renal cell cancer is a rare, inherited disease caused by mutations in the fumarate hydratase gene. It is characterized by cutaneous leiomyomas, uterine leiomyomas, and/or renal cell cancer. We present the case of a 42-year-old woman with a heterozygous missense mutation (p.M195T) in the fumarate hydratase gene. Although the patient did not have cutaneous leiomyoma and she had no family history of hereditary leiomyomatosis and renal cell cancer, the presence of early onset symptomatic uterine leiomyoma and type 2 papillary renal cell cancer confirmed the diagnosis of hereditary leiomyomatosis and renal cell cancer.
URL :https://doi.org/10.1016/j.eucr.2020.101141
Type Local :雑誌掲載論文
ISSN :2214-4420
Publisher :Elsevier
URI :http://hdl.handle.net/20.500.12000/47486
Citation :Urology Case Reports Vol.30
Appears in Collections:Peer-reviewed Journal Articles (Faculty of Medicine)

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