2021 Volume 21 Issue 1 Pages 1-6
Hereditary leiomyomatosis and renal cell cancer （HLRCC） is a genetic disorder characterized by cutaneous and uterine leiomyomatosis and kidney cancer. It is also called ‘Reed syndrome’. The disease is caused by the heterozygous mutations in the fumarate hydratase （FH） gene, which is one of the enzymes of the tricarboxylic acid cycle and participates in fundamental metabolic pathways of energy production. HLRCC-associated renal cell carcinomas present highly aggressive and metastatic phenotypes. It is sometimes diagnosed in children and young adults. The early multidisciplinary treatment and family care are therefore very important for the patients with HLRCC as well as for family members at-risk.
