What Is Turcot Syndrome?
Turcot Syndrome is an uncommon hereditary condition that increases the risk of developing colon polyps and brain tumours. These are small, abnormal growths in the lining of the large intestine, as well as tumours in the brain, especially those within the central nervous system. If left untreated, some of these growths may progress into cancer.
Causes of Turcot Syndrome
This syndrome stems from inherited mutations in specific genes passed from parents to their children. These mutations impair the body’s ability to repair damaged DNA, setting the stage for abnormal cell development and tumour formation.
There are two primary forms of Turcot Syndrome:
- Type I is typically linked to mutations in mismatch repair genes such as MLH1, MSH2, PMS2, or MSH6. This type often results in brain tumours known as glial tumours, including glioblastoma.
- Type II is associated with mutations in the APC gene. It’s more commonly connected with colorectal cancer and brain tumours like medulloblastoma or ependymoma.
Signs and Symptoms
Colon-Related symptoms
- Blood in stool
- Pain or discomfort in the abdomen
- Constant diarrhea or constipation
- Fatigue (constant Tiredness) often caused by anemia due to blood loss
Brain tumour Symptoms:
- Headache usually in the morning
- Nausea and vomiting
- Seizures (fits)
- Weakness or numbness in limbs
- Balance or vision problems
Diagnosis
Doctors rely on several tools to identify Turcot Syndrome:
- Genetic Testing: A blood sample can reveal mutations in the relevant genes.
- Colonoscopy: Used to inspect the colon for polyps or malignancies.
- Imaging Tests (MRI/CT scans): These help detect brain tumours early.
It often occurs in adolescence or early adulthood, especially in families with a history of cancer.
Treatment
For Brain Tumours:
- Surgical removal of the tumour
- Radiation therapy to target remaining cancer cells
- Chemotherapy to halt further spread
For Colon Abnormalities:
- Surgical intervention to remove polyps or cancerous sections of the colon
- Chemotherapy when cancer is present
- Routine colonoscopies (examination of the large intestine through an instrument named colonoscopy) to monitor new growths
Long-Term Care and Monitoring
Ongoing medical follow-up is critical. This includes:
- Periodic brain imaging
- Regular colon checkups
- Support from a multidisciplinary medical team
Prognosis (Disease Outcome)
The outlook varies based on:
- The specific type and aggressiveness of the brain tumour
- The presence and stage of colon cancer
Although some brain tumours can pose serious health threats, early diagnosis and consistent treatment greatly improve quality of life and survival chances.
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