hereditary leiomyomatosis and renal cell cancer (HLRCC)

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