What is Turcot syndrome?

Turcot syndrome is a rare condition caused by inheriting a faulty gene. People with this develop both brain tumours and growths (polyps) in the lining of their bowel, which may in time become cancerous. It is also sometimes called brain-tumour polyposis.

Doctors believe that Turcot syndrome may describe at least two separate conditions. Brain tumour-polyposis 1 (BTP1) and Brain tumour-polyposis 2 (BTP2).

Brain tumour-polyposis 1 (BTP1):

• usually affects young people under 20 years of age
• is linked to glioblastoma or astrocytoma brain tumours
• leads to small numbers of larger polyps in the bowel
• is often associated with coffee coloured spots on the skin
• brothers and sisters may be affected but parents usually have no signs of the condition
• may be related to a condition called hereditary non-polyposis colorectal cancer (HNPCC).

Brain tumour-polyposis 2 (BTP2):

• can affect any age group
• is linked to medulloblastoma brain tumour
• leads to large numbers of smaller polyps in the bowel
• often a parent of the person with BTP2 also has a history of bowel polyps
• may be related to a condition called familial adenomatous polyposis (FAP).

If you have Turcot syndrome your treatment depends on the particular symptoms and problems you have. So, treatment can vary from person to person.

References

• Murphy, H et al (2005) Review of the classification and genetic basis of Turcot syndrome. Familial cancer 4:139-143
• Hamilton, S (1995). The molecular basis of Turcot's syndrome. New England Journal of Medicine. 332(13): 839-47.