Hereditary leiomyomatosis and renal cell cancer (HLRCC): A case report
| Autor: | Noritake Kosuge, Seiichi Saito, Yasutsugu Chinen, Tadashi Kaname, Kouichi Tamashiro, Tomoko Yonamine |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2020 |
| Předmět: |
Pathology
medicine.medical_specialty Cutaneous Leiomyoma Papillary renal cell cancer Urology Uterine leiomyoma Hereditary leiomyomatosis and renal cell cancer (HLRCC) 030232 urology & nephrology lcsh:RC870-923 urologic and male genital diseases 03 medical and health sciences 0302 clinical medicine Leiomyomatosis medicine Missense mutation Family history neoplasms business.industry lcsh:Diseases of the genitourinary system. Urology female genital diseases and pregnancy complications Oncology 030220 oncology & carcinogenesis Fumarase Cell cancer Inherited disease business Fumarate hydratase |
| Zdroj: | Urology Case Reports Urology Case Reports, Vol 30, Iss, Pp-(2020) |
| ISSN: | 2214-4420 |
| Popis: | 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. 論文 |
| Databáze: | OpenAIRE |
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