Hereditary Leiomyomatosis and Renal Cell Cancer
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...
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Society for Publication of Acta Dermato-Venereologica
2020-01-01
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doaj-0f435438720243218b421dadcb1bd4272020-11-25T01:59:04ZengSociety for Publication of Acta Dermato-VenereologicaActa Dermato-Venereologica0001-55551651-20572020-01-011001adv0001210.2340/00015555-33665630Hereditary Leiomyomatosis and Renal Cell CancerAnders Würgler Hansen0Zahràa ChayedKristine PallesenIleana Codruta VasilescuAnette Bygum Faculty of Health Sciences, University of Southern Denmark, DK-5000 Odense C, Denmark. anders.wurgler.hansen@rsyd.dk. 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. https://www.medicaljournals.se/jadv/content/html/10.2340/00015555-3366 hereditary leiomyomatosis cutaneous leiomyomas uterine leiomyomas renal cell carcinoma cancer surveillance |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Anders Würgler Hansen Zahràa Chayed Kristine Pallesen Ileana Codruta Vasilescu Anette Bygum |
spellingShingle |
Anders Würgler Hansen Zahràa Chayed Kristine Pallesen Ileana Codruta Vasilescu Anette Bygum Hereditary Leiomyomatosis and Renal Cell Cancer Acta Dermato-Venereologica hereditary leiomyomatosis cutaneous leiomyomas uterine leiomyomas renal cell carcinoma cancer surveillance |
author_facet |
Anders Würgler Hansen Zahràa Chayed Kristine Pallesen Ileana Codruta Vasilescu Anette Bygum |
author_sort |
Anders Würgler Hansen |
title |
Hereditary Leiomyomatosis and Renal Cell Cancer |
title_short |
Hereditary Leiomyomatosis and Renal Cell Cancer |
title_full |
Hereditary Leiomyomatosis and Renal Cell Cancer |
title_fullStr |
Hereditary Leiomyomatosis and Renal Cell Cancer |
title_full_unstemmed |
Hereditary Leiomyomatosis and Renal Cell Cancer |
title_sort |
hereditary leiomyomatosis and renal cell cancer |
publisher |
Society for Publication of Acta Dermato-Venereologica |
series |
Acta Dermato-Venereologica |
issn |
0001-5555 1651-2057 |
publishDate |
2020-01-01 |
description |
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. |
topic |
hereditary leiomyomatosis cutaneous leiomyomas uterine leiomyomas renal cell carcinoma cancer surveillance |
url |
https://www.medicaljournals.se/jadv/content/html/10.2340/00015555-3366
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work_keys_str_mv |
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