turcot syndrome

Turcot syndrome is one of the variations in polyposis syndromes. It is characterized by multiple colonic polyps and an increased risk of colon and primary brain cancers.

Epidemiology

Turcot syndrome is a rare disease. Patients typically present in thesecond decade .

Pathology

Turcot syndrome is characterized by:

• intestinal polyposis
• CNS tumors: most commonly glioblastoma or medulloblastoma

Genetics

It is thought to carry an autosomal recessive inheritance. Two-thirds of patients have mutations in the APC gene, the same genetic defect as in familial adenomatous polyposis (FAP). These patients have multiple colonic adenomas, and virtually all develop colorectal carcinoma by the age of 40. The common intracranial tumor in this subtype is medulloblastoma.

The other third have mutations in the HNPCC genes. Colonic malignancy is not as common in this type but tends to develop at a younger age. Most develop glioblastomas.

History and etymology

It is named after Jacques Turcot (1915 - 1977) , Canadian surgeon.

Siehe auch:

• Glioblastoma multiforme
• Medulloblastom
• polyposis syndromes
• hereditary non-polyposis colon cancer syndrome (HNPCC)

und weiter:

• Kolon
• Kolorektales Karzinom
• hereditary non-polyposis colorectal cancer