[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.

• Authors: María Victoria González Ibáñez, Lismary Ruiz Cabezas, Alicia Moreno Ontalba, Alejandro Rubio Fernández, Carlos Mayoral Guisado, Manuela Flores Barranquero, Mario Díaz Delgado
• Journal: Revista espanola de patologia : publicacion oficial de la Sociedad Espanola de Anatomia Patologica y de la Sociedad Espanola de Citologia (Rev Esp Patol) 2021 Jul-Sep Vol. 54 Issue 3 Pg. 193-196 ISSN: 1988-561X [Electronic] Spain
• Vernacular Title: Síndrome de leiomiomatosis hereditaria asociado a carcinoma de células renales. Presentación de un caso.
• PMID: 34175032 (Publication Type: Case Reports, Journal Article)
• Copyright: Copyright © 2019 Sociedad Española de Anatomía Patológica. Publicado por Elsevier España, S.L.U. All rights reserved.

Topics

• Adult
• Carcinoma, Renal Cell (chemistry, genetics, pathology)
• Humans
• Kidney Neoplasms (chemistry, genetics, pathology)
• Leiomyomatosis (chemistry, genetics, pathology)
• Male
• Neoplastic Syndromes, Hereditary (genetics, pathology)
• Skin Neoplasms (chemistry, genetics, pathology)
• Uterine Neoplasms (chemistry, genetics, pathology)