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

• Published in: Revista española de patología Vol. 54; no. 3; pp. 193 - 196
• Main Authors: González Ibáñez, María Victoria, Ruiz Cabezas, Lismary, Moreno Ontalba, Alicia, Rubio Fernández, Alejandro, Mayoral Guisado, Carlos, Flores Barranquero, Manuela, Díaz Delgado, Mario
• Format: Journal Article
• Language: Spanish
• Published: Spain 01.07.2021
• Subjects: Adult; Carcinoma, Renal Cell - chemistry; Carcinoma, Renal Cell - genetics; Carcinoma, Renal Cell - pathology; Humans; Kidney Neoplasms - chemistry; Kidney Neoplasms - genetics; Kidney Neoplasms - pathology; Leiomyomatosis - chemistry; Leiomyomatosis - genetics; Leiomyomatosis - pathology; Male; Neoplastic Syndromes, Hereditary - genetics; Neoplastic Syndromes, Hereditary - pathology; Skin Neoplasms - chemistry; Skin Neoplasms - genetics; Skin Neoplasms - pathology; Uterine Neoplasms - chemistry; Uterine Neoplasms - genetics; Uterine Neoplasms - pathology; Fumarate hydratase-deficient renal cell carcinoma; Fumarato hidratasa; Fumarate hydratase; Hereditary leiomyomatosis and renal cell carcinoma syndrome; Carcinoma de células renales deficiente en fumarato hidratasa; Leiomiomatosis hereditaria asociada a carcinoma de células renales
• ISSN: 1988-561X
• DOI: 10.1016/j.patol.2019.07.001

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.