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Madisons Foundation - Moms And Dads In Search Of Needed Support
What
Turcot Syndrome is a rare genetic disorder that leads to the development of colon and brain tumors. It is related to two diseases, the familial adenomatous polyposis (FAP) and hereditary nonpolyposis colorectal cancer (HNPCC) syndromes. In these syndromes, individuals experience an abnormal growth of cells that eventually develops into cancer. In FAP and HNPCC, this growth is limited to the colon. In Turcot syndrome, however, the tissues at risk for developing cancer are in both the colon and the brain.
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
Individuals with Turcot syndrome may not develop symptoms until they develop colon cancer. This occurs at around 40 years of age for FAP and 50 years for HNPCC. When colon cancer develops, people commonly complain of rectal bleeding, abdominal pain, abdominal masses, diarrhea, and weight loss. Some people with Turcot syndrome develop brain tumors and have symptoms in the second decade of life. Common symptoms of brain tumors are headache (especially in the morning), vomiting (especially in the morning), double vision, difficulty with eye movements, clumsiness, unsteadiness, and trouble walking. Patients may also have skin symptoms including light brown skin spots (café au lait), red-purple spots (port wine stain), and lumps on their skin. They may also develop skin cancers of the scalp, most frequently basal cell carcinoma.
Possible Causes
Turcot Syndrome is a genetic disease, so the risk of developing Turcot syndrome is passed from parent to child. It is inherited in an autosomal dominant pattern, meaning that a parent with a mutated copy of the gene has a 50% chance of passing this mutation (along with the disease) to the child. Although the exact gene mutation leading to Turcot Syndrome has not been identified, several known mutations appear associated with the disease. These genes are normally involved in "double-checking" and controlling cellular growth, so mutations lead to increased risk for developing cancers. For example, mutations in a gene called APC could lead to the development of FAP and brain tumors called medulloblastomas. Mutations in the genes called MLH1 and PMS2 could lead to HNPCC and brain tumors called glioblastomas.
Diagnosis
A colonoscopy or sigmoidoscopy, in which a camera is placed into the rectum to visualize the inside of the large bowel, will demonstrate multiple polyps or growths of tissue. Biopsies of this tissue will determine whether cancer has developed. The brain tissue can be viewed with an imaging study, either by Computerized Tomography (CT) or Magnetic Resonance Imaging (MRI). If a growth is suspicious for a brain tumor, a biopsy may need to be performed, in which surgery is done to take a sample of the tissue for analysis. There are also genetic tests of the blood to look for the specific mutations associated with FAP or HNPCC. If these tests are positive, other family members may need to be tested for the mutation as well.
Treatment
Currently, there is no treatment to cure the inherited genetic defect responsible for Turcot Syndrome. The most important treatment is regular screening for the development of colon or brain cancer if the disease is known to run in a particular family. This includes frequent colonoscopies and brain imaging with Magnetic Resonance Imaging (MRI). Because of the high risk of developing colon cancer, removal of the entire colon before cancer develops is recommended. Medications like celecoxib may be used to decrease the size and number of polyps in the rectum. There are no official recommendations for the frequency of screening for brain cancer, but all patients with Turcot Syndrome should be followed by a neurologist. The best treatment for cancer is early detection.
Prognosis
Prognosis: The prognosis of patients with Turcot Syndrome depends upon the kind of genetic disease they have. The most dangerous aspect of Turcot Syndrome is the development of brain cancer. With aggressive screening, patients may have a life expectancy into the mid-40s or even greater. Families of an individual with Turcot Syndrome should consider speaking to a geneticist for screening and counseling about the risk of this disease in future children.
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.
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
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