Hereditary Leiomyomatosis and Renal Cell Cancer
| Autor: | Anette Bygum, Zahràa Chayed, Kristine Appel Uldall Pallesen, Ileana Codruta Vasilescu, Anders Würgler Hansen |
|---|---|
| Rok vydání: | 2020 |
| Předmět: |
Adult
Male 0301 basic medicine renal cell carcinoma Pathology medicine.medical_specialty Skin Neoplasms Cutaneous Leiomyoma Cell Dermatology 030105 genetics & heredity Cutaneous leiomyomas Uterine leiomyomas Young Adult 03 medical and health sciences 0302 clinical medicine Leiomyomatosis cutaneous leiomyomas Neoplastic Syndromes Hereditary Renal cell carcinoma medicine Humans Genetic Predisposition to Disease Genetic testing Hereditary leiomyomatosis medicine.diagnostic_test business.industry Genodermatosis uterine leiomyomas Syndrome General Medicine Cancer surveillance medicine.disease Penetrance medicine.anatomical_structure RL1-803 Uterine Neoplasms cancer surveillance Female Hereditary leiomyomatosis and renal cell carcinoma hereditary leiomyomatosis business 030217 neurology & neurosurgery |
| Zdroj: | Hansen, A W, Chayed, Z, Pallesen, K, Codruta Vasilescu, I & Bygum, A 2020, ' Hereditary leiomyomatosis and renal cell cancer ', Acta Dermato-Venereologica, vol. 100, no. 1, adv00012 . https://doi.org/10.2340/00015555-3366 Acta Dermato-Venereologica, Vol 100, Iss 1, p adv00012 (2020) |
| ISSN: | 0001-5555 |
| Popis: | Hereditary leiomyomatosis and renal cell cancer is a genodermatosis with an autosomal dominant inheritance pattern. It is a tumour predisposition syndrome characterized by cutaneous and uterine leiomyomas, and increased susceptibility to develop renal cell carcinoma. There are 200–300 families with hereditary leiomyomatosis and renal cell carcinoma reported worldwide, but the syndrome is believed to be underdiagnosed. Cutaneous leiomyomas are small smooth muscle tumours that tend to grow over time. Larger lesions, in particular, can cause pain or itching. Uterine leiomyomas have a high penetrance in women with hereditary leiomyomatosis and renal cell cancer. They frequently cause symptoms, and surgical intervention is often necessary. Hereditary leiomyomatosis and renal cell cancer-associated renal cell carcinomas have a high potential to metastasize. Patients are diagnosed by genetic testing if a pathogenic mutation is demonstrated in the gene encoding fumarate hydratase. Immunohistochemistry may be a useful diagnostic approach in patients without a detectable pathogenic mutation. Diagnosed patients should be monitored for renal tumours in a lifelong surveillance programme. |
| Databáze: | OpenAIRE |
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