Hereditary Leiomyomatosis and Renal Cell Cancer-Recognizing Patterns May Save Lives

Journal of Kidney Cancer and VHL

Miguel Silva-Ramos¹  Catarina Tavares¹  José Ricardo Brandão¹  Maria Sofia Quental² 

[1] Centro Hospitalar Universitário do Porto, Largo do Prof. Abel Salazar, Porto, Portugal.;Instituto de Patologia e Imunologia Molecular da Universidade do Porto (IPATIMUP), Rua Júlio Amaral de Carvalho 45, Porto, Portugal.;

关键词: fumarate hydratase;    hereditary renal cell cancer;    HLRCC;    renal cell carcinoma;   

DOI  :  

来源: DOAJ

【 摘 要 】

In 2001, Finish investigators described a rare familiar syndrome characterized by an inherited susceptibility to cutaneous leiomyomas, uterine leiomyomas, and renal cell carcinoma (RCC). Hereditary leiomyomatosis and renal cell cancer (HLRCC) is now linked to a germline mutation in the fumarate hydratase (FH) gene that encodes a Krebs cycle enzyme, transforming fumarate to malate. The accumulation of fumarate, an oncometabolite, promotes tumorigenesis. We present a case of a 41-year-old female diagnosed with HLRCC after a radical nephrectomy due to renal cell cancer. Genetic analyses confirmed a novel FH mutation. Close follow-up allowed for a precocious diagnosis of a metachronous renal tumor and later a hepatic metastasis. Her family was also counseled and offered genetic testing. As observed in this case, the diagnosis of HLRCC is of paramount importance for patients and their families: there is a 15% cumulative lifetime risk of developing RCC, which frequently occurs in young patients and metastasizes at an early stage. Implementing a regular follow-up with adequate imaging examinations may help save lives.

【 授权许可】

Unknown