Melanoma and basal cell carcinoma in the hereditary leiomyomatosis and renal cell cancer syndrome. An expansion of the oncologic spectrum.

Abstract

Background: Hereditary leiomyomatosis and renal cell cancer syndrome (HLRCC) is an autosomal dominant syndrome due to mutation in fumarate hydratase. Patients with HLRCC frequently develop cutaneous and uterine leiomyomata and are at risk for renal cell carcinoma. Rarely, other malignancies have been reported.

An Aggressive Clinical Presentation of Familial Leiomyomatosis Associated with a Fumarate Hydratase Gene Variant of Uncertain Clinical Significance

“…However, it warrants close follow-up of lesions with biopsies when lesions rapidly increase in size, become ulcerated or are suddenly more painful ( 4 ). In 2016, Sommer et al ( 5 ) reported the case of a melanoma and basal cell carcinoma in a patient with HLRCC and they emphasise the need for close skin surveillance and follow-up ( 5 ).…”