Hereditary leiomyomatosis and renal cell carcinoma (HLRCC), also known as Reed syndrome, is an autosomal dominant tumor susceptibility syndrome.
Pathology
It is characterized by:
- predisposition to benign cutaneous and uterine leiomyomas (fibroids, myomas)
- susceptibility to early-onset renal cell carcinoma
- typically solitary and aggressive tumors where histological types include papillary type 2 or collecting duct types
- susceptibility to uterine leiomyosarcoma
- in a subset of families
Genetics
Mutations in the gene fumarate hydratase (fumarase, FH) has been identified as the responsible underlying mechanism.
