[Hereditary leiomyomatosis syndrome associated with renal cell carcinoma. A case report]

Abstract

Hereditary leiomyomatosis (HL) is a rare autosomal dominant syndrome resulting from a mutation in the germline of the fumarate hydratase (FH) gene. Patients with this syndrome have an increased risk of cutaneous and uterine smooth muscle tumors as well as renal cancer. Renal carcinoma associated with hereditary leiomyomatosis (HLRCC) was recognized as a subtype of independent renal tumor in the 2016 WHO classification. We present a case of HLRCC occurring in a 39-year-old man with no family history or specific skin manifestations at the time of diagnosis.

Keywords: Carcinoma de células renales deficiente en fumarato hidratasa; Fumarate hydratase; Fumarate hydratase-deficient renal cell carcinoma; Fumarato hidratasa; Hereditary leiomyomatosis and renal cell carcinoma syndrome; Leiomiomatosis hereditaria asociada a carcinoma de células renales.