Hereditary leiomyomatosis and renal cell cancer (HLRCC): A case report

資料種別:
論文(リポジトリ)
責任表示:
Yonamine, Tomoko ; Kaname, Tadashi ; Chinen, Yasutsugu ; Tamashiro, Kouichi ; Kosuge, Noritake ; Saito, Seiichi
言語:
英語
出版情報:
Elsevier, 2020-05
著者名:
Yonamine, Tomoko
Kaname, Tadashi
Chinen, Yasutsugu
Tamashiro, Kouichi
Kosuge, Noritake
Saito, Seiichi
続きを見る
掲載情報:
Urology Case Reports
ISSN:
2214-4420  CiNii Articles  Webcat Plus  JAIRO
巻:
30
バージョン:
publisher
概要:
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. 続きを見る
URL:
http://hdl.handle.net/20.500.12000/47486
eリソース
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