Hereditary leiomyomatosis and renal cell cancer (HLRCC): A case report
| العنوان: | Hereditary leiomyomatosis and renal cell cancer (HLRCC): A case report |
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| المؤلفون: | Noritake Kosuge, Seiichi Saito, Yasutsugu Chinen, Tadashi Kaname, Kouichi Tamashiro, Tomoko Yonamine |
| المصدر: | Urology Case Reports Urology Case Reports, Vol 30, Iss, Pp-(2020) |
| بيانات النشر: | Elsevier, 2020. |
| سنة النشر: | 2020 |
| مصطلحات موضوعية: | 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 |
| الوصف: | 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 |
| وصف الملف: | application/pdf |
| اللغة: | English |
| تدمد: | 2214-4420 |
| URL الوصول: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::47ff7db831e881d16d8701e0f7b8e4fa http://europepmc.org/articles/PMC7052518 |
| حقوق: | OPEN |
| رقم الأكسشن: | edsair.doi.dedup.....47ff7db831e881d16d8701e0f7b8e4fa |
| قاعدة البيانات: | OpenAIRE |
Full Text via ClinicalKey | تدمد: | 22144420 |
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