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What

Turcot’s syndrome is a very rare, inherited, disorder characterized by brain and colon (intestinal) tumors. It is a variant of the familial adenomatous polyposis (FAP) and hereditary nonpolyposis colorectal cancer (HNPCC) syndromes. These are two inherited syndromes where multiple growths develop in the colon and can later transform into cancer. Turcot’s was named after the Canadian physician who first described it.

Who

Turcot’s syndrome is very rare. FAP occurs in one in 20,000 children and HNPCC is five times more common. Boys and girls of all races and ethnicities are affected equally.

Signs and Symptoms

FAP causes multiple polyps of the colon usually by age 16. Most people with FAP do not have any symptoms until they develop cancer. Colon cancer occurs in almost all people with FAP and usually manifests by the age of 40 years. Rectal bleeding, abdominal pain, abdominal masses, and weight loss are common complaints. Eighty percent of people with HNPCC develop colon cancer. This usually occurs by the age of 50 years. The number and size of polyps found in people with Turcot’s syndrome can vary. In Turcot’s syndrome, brain cancer occurs alongside colon cancer. When FAP is present, patients with Turcot’s develop medulloblastomas, whereas patients with HNPCC develop gliomas. These are two different types of brain cancers. Children with brain tumors may complain of headache, especially in the mornings, early morning vomiting, limited eye movement, eye crossing, decreased or double vision, clumsiness, unstable walking and frequently falling. Patients with Turcot’s syndrome may have light-brown skin spots (café au lait), red-purplish spots (port wine stain), and skin cysts. They are also at risk for developing other cancers, such as cancers of the thyroid, liver, nose, bone, uterus and ovaries.

Possible Causes

FAP is caused by a mutation (change) of the APC gene on chromosome 5. This gene normally makes proteins to regulate cell growth and cell death. In FAP, this regulation is lost and the result is uncontrolled cellular growth and tumor formation. FAP is inherited in an autosomal dominant fashion. If one parent has the mutation, there is a 50% chance of transmitting the mutation to each child. A family history of FAP is usually present. HNPCC is caused by the mutation of special repair genes located on chromosome 2. These genes normally make proteins to proofread DNA replication and correct mistakes. Patients with HNPCC therefore, are at a higher risk for genetic mutation and for developing cancer

Diagnosis

A colonoscopy or sigmoidoscopy will show multiple colon polyps or growths. A biopsy of these growths will determine if cancerous transformation has occurred. Genetic testing is available for FAP and HNPCC. The brain tumor will be diagnosed by a CT or MRI scan of the brain. Confirming the diagnosis of medulloblastoma or glioma requires obtaining a piece of the tumor to study under the microscope. This is done during surgical removal of the cancer.

Treatment

There is no cure for Turcot’s syndome. However, research in genetic therapy hopes to one day correct the genetic defect. Removal of the colon is often recommended before the onset of cancer. Celecoxib may be beneficial in reducing the size and number of polyps remaining in the rectum. Surgery is necessary to remove the brain tumor. Radiation and chemotherapy may also be used. Biannual examinations and close monitoring for cancerous progression is crucial in patients with Turcot’s syndome. Most of the cancers are curable if detected early.

Prognosis

People with untreated FAP have an average life expectancy of 42 years. Life expectancy is improved in people who undergo colon surgery. However, people with Turcot’s syndrome may die due to their brain cancer. Prognosis is better if the diagnosis is made early and appropriate treatment is quickly begun.

Connect with other parents

In the spirit of community and support, Madisons Foundation offers the unique service of connecting parents of children with rare diseases. If you would like to be connected to other parents of children with this disease, please fill out this brief form.

Weblinks

HerSupport.com
Provides online support for children with cancer, including newsletter, chat rooms, pan pals.

Candlelighters Childhood Cancer Foundation® (CCCF)
National non-profit organization providing education, support, and advocacy for families of children with cancer.

CureSearch.org.
From the National Childhood cancer Foundation and the Children's Oncology Group, a website providing information and support.

Disease Database
Central website for links on useful information.

WebMD
Reliable information on this condition.

Google Search for Turcot's Syndrome

References and Sources

www.emedicine.com/med/topic769.htm www.jhu.edu/~gazette/aprjun95/apr0395/03briefs.html www.amershamhealth.com/medcyclopaedia/medical/volume%20IV%201/TURCOTS%20SYNDROME.ASP www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=276300