Turcot syndrome

Also known as: Association of Multiple Polyps of the Colon and a Primary Tumour of the Central Nervous System

Background

Turcot syndrome is a rare genetic condition. People with Turcot syndrome have multiple adenomatous colon polyps (which are small growths on the inner lining of the colon), an increased risk of colorectal cancer, occurring at a much earlier age than usual and an increased risk of brain cancer. This presentation may be associated with one of two recognisable genetic conditions associated with polyp formations: hereditary non-polyposis colorectal cancer (HNPCC) and familial adenomatous polyposis (FAP). The genetics of these syndromes is now well described with FAP arising in the majority of cases from a change in the APC gene (chromosome 5) and HNPCC arising from changes in genes involved in DNA repair (chromosomes 3 and 7). Turcot syndrome is diagnosed based on the symptoms in a person with known multiple colonic polyps who develops a primary brain tumour with a relevant family history. Treatment of Turcot syndrome includes appropriate management of the underlying colonic polyps by a gastroenterologist experienced in FAP or HNPCC and appropriate management of the primary brain tumour by an oncology (cancer) specialist. As HNPCC and FAP can be inherited, affected families should be referred to a genetics centre for information and support.

This overview is intended to be a basic description of the condition. It is not intended to replace specialist medical advice. We advise that you discuss your child’s case with a qualified medical professional who will be able to give you more detailed information.

Credits

Medical text approved February 2013 by Dr Jenny Fisken (retired), formerly Associate Specialist in Community Paediatrics, North Yorkshire and York PCT.

Is there support?

There is currently no support group for Turcot syndrome in the UK.

Families can use Contact’s freephone helpline for advice and information. To meet other families with disabled children, join Contact’s closed (private) Facebook group.