Anders Würgler Hansen, Zahràa Chayed, Kristine Pallesen, Ileana Codruta Vasilescu, Anette Bygum
DOI: 10.2340/00015555-3366

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.

Hereditary leiomyomatosis and renal cell cancer (HLRCC) is an inherited tumour predisposition syndrome. Around 75% of individuals with HLRCC develop cutaneous leiomyomas, which are skin tumours that can cause pain and itching. Most women with HLRCC develop uterine leiomyomas that often cause gynecological symptoms and typically require surgery. Around 20% develop renal cell carcinoma. HLRCC-associated renal cell carcinomas are aggressive tumours with a high potential to metastasize. Individuals with features suggestive of HLRCC and at-risk family members should undergo genetic testing. Individuals harbouring a pathogenic mutation should be offered lifelong surveillance so renal neoplasms are detected and treated in time.