Hereditary Leiomyomatosis and Renal Cell Cancer

Authors

  • Anders Würgler Hansen
  • Zahràa Chayed
  • Kristine Pallesen
  • Ileana Codruta Vasilescu
  • Anette Bygum

DOI:

https://doi.org/10.2340/00015555-3366

Keywords:

hereditary leiomyomatosis, cutaneous leiomyomas, uterine leiomyomas, renal cell carcinoma, cancer surveillance

Abstract

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.

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Published

2020-01-07

How to Cite

Würgler Hansen, A., Chayed, Z., Pallesen, K., Codruta Vasilescu, I., & Bygum, A. (2020). Hereditary Leiomyomatosis and Renal Cell Cancer. Acta Dermato-Venereologica, 100(1), 1–7. https://doi.org/10.2340/00015555-3366