hereditary leiomyomatosis and renal cell carcinoma

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.

See also

• hereditary renal cell carcinoma syndromes

Siehe auch:

• Nierenzellkarzinom
• Leiomyofibrom Uterus
• hereditary renal cell cancer syndromes

und weiter:

• Leiomyom
• hereditary renal cancer syndromes
• makronoduläre Hyperplasie der Nebennieren
• Leiomyomatose