Turcot syndrome is a rare genetic disorder. It is estimated to affect about 1 in a million people.
What is Turcot Syndrome?
Turcot syndrome is a rare condition that combines two serious health problems:
- Brain tumors: These are usually medulloblastomas, a type of cancer that starts in the cerebellum, the part of the brain that controls balance and coordination.
- Colorectal cancer: This is cancer of the colon and rectum, which are parts of the large intestine.
Causes of Turcot Syndrome
Turcot syndrome is caused by mutations in two specific genes:
- APC gene: This gene is involved in controlling cell growth and division.
- TP53 gene: This gene is a tumor suppressor gene that helps prevent cancer.
Symptoms of Turcot Syndrome
Symptoms of Turcot syndrome can vary depending on the specific types of tumors and the age of the person affected. Some common symptoms include:
- Headaches
- Vomiting
- Dizziness
- Changes in vision
- Seizures
- Blood in the stool
- Abdominal pain
- Weight loss
Diagnosis of Turcot Syndrome
Diagnosing Turcot syndrome can be challenging as it often involves a combination of symptoms and tests. Doctors may use the following tests:
- Imaging tests: These include MRI, CT scan, and X-ray to visualize the brain and intestines.
- Biopsy: A sample of tissue is taken from the tumor and examined under a microscope.
- Genetic testing: This can help confirm the presence of mutations in the APC and TP53 genes.
Treatment of Turcot Syndrome
Treatment for Turcot syndrome depends on the specific type and location of the tumors. It may involve a combination of:
- Surgery: This is used to remove the tumors.
- Radiation therapy: This is used to kill cancer cells.
- Chemotherapy: This is used to kill cancer cells.
- Targeted therapy: This is a newer type of treatment that targets specific proteins involved in cancer growth.
Living With Turcot Syndrome
Living with Turcot syndrome can be challenging, but with proper medical care, people can manage their condition and live fulfilling lives. Regular checkups and early detection of tumors are crucial for successful treatment.
