Turcot Syndrome

What is Turcot syndrome?

Turcot syndrome (tur-KOH) is a rare genetic disease. It causes small growths (polyps) in your gastrointestinal tract and brain tumors.

Growths in your intestines can cause rectal bleeding, diarrhea and stomach pain. Depending on the size and location of the brain or spinal cord tumor, you may have neurological symptoms, such as headaches, blurred vision or difficulty with balance.

Is Turcot syndrome a type of familial adenomatous polyposis?

Some researchers think Turcot syndrome is a type of familial adenomatous polyposis (FAP), but this hasn’t been proven. FAP is a condition that causes precancerous growths to form in your large intestine.

Some people have Turcot syndrome because of a change (mutation) in the APC gene. APC gene mutations can also cause FAP.

How common is Turcot syndrome?

Turcot syndrome is extremely rare. Experts don’t know exactly how many people have the condition, but medical journals have reported only around 150 cases.

What causes Turcot syndrome?

Turcot syndrome is an inherited genetic disorder, meaning it occurs because of a gene mutation passed down from your parents. There are two types of Turcot syndrome:

• Type 1, or “true” Turcot syndrome, is passed down as an autosomal recessive trait. This means that both of your parents passed on the gene changes (mutations) that cause Turcot syndrome. Type 1 Turcot syndrome most likely forms because of changes (mutations) in the MLH1 and PMS2 genes.
• Type 2 is inherited as an autosomal dominant trait. This means only one of your parents needs to pass on the gene mutation that causes Turcot syndrome. Type 2 Turcot syndrome occurs because of a mutation in the APC gene. The APC gene’s role is to keep tumors from forming or growing.

What are the symptoms of Turcot syndrome?

The most common characteristics of Turcot syndrome are growths (polyps) in your intestinal tract and one or more brain or spinal cord tumors. People with Turcot syndrome may develop dozens of polyps starting at an early age.

Signs of polyps from Turcot syndrome

The number of polyps a person has can vary. People with Type 1 Turcot syndrome are more likely to have polyps that become cancerous. People with Type 2 Turcot syndrome are more likely to have familial adenomatous polyposis (FAP). Intestinal polyps may cause:

• Abdominal pain.
• Constipation.
• Diarrhea.
• Rectal bleeding.
• Weight loss.

Symptoms of brain tumors due to Turcot syndrome

Brain or spinal cord tumors may cause symptoms that affect your central nervous system. Your central nervous system includes your brain and spinal cord and controls most of your body’s functions. Symptoms include:

• Balance problems.
• Headaches.
• Loss of sensation (numbness) in your hands, feet or limbs.
• Nausea or vomiting.
• Seizures.
• Vision problems, including double vision or blurred vision.
• Weakness in one part of your body, such as one arm or leg or one side of your body.

Other tumors and skin problems

People with Turcot syndrome are more likely to have fatty, noncancerous growths (lipomas) or small brown spots on their skin (café-au-lait spots).

Turcot syndrome also increases the risk of certain cancers and tumors, including:

• Colon cancer.
• Astrocytoma.
• Ependymoma, a tumor that starts in the ependymal cells, the cells that line the portions of your brain and spinal cord that contain cerebrospinal fluid (CSF).
• Glioma.
• Glioblastoma.
• Medulloblastoma, a brain tumor that develops in the cerebellum, the bottom portion of your brain near your skull.
• Basal cell carcinoma.

How is Turcot syndrome diagnosed?

To diagnose Turcot syndrome, your healthcare provider uses several tests to look at your brain and your intestines. You may have:

• X-rays, MRIs and CT scans to look for brain tumors or intestinal masses or polyps. Your doctor may recommend a PET scan in certain situations.
• Colonoscopy to view and look for irregularities in your large intestine or rectum.
• Biopsy to evaluate small pieces of tissue from your colon or if necessary, from your brain if a mass is found there.

If you have a parent with Turcot syndrome, you’ll likely have screenings to check for the condition. Your healthcare provider may recommend:

• DNA testing:Genetic testing looks for the mutated genes that cause Turcot syndrome.
• Sigmoidoscopy: Healthcare providers evaluate the lower part of your large intestine (sigmoid colon) with either a flexible sigmoidoscopy or proctoscopy. Children and young people who inherit a gene related to Turcot syndrome may have colon exams regularly up until age 35. These tests help your healthcare team stay on guard for colon polyps to treat them early.

How is Turcot syndrome treated?

Turcot syndrome treatment varies based on symptoms. You may need to have your polyps removed (polypectomy.) Your healthcare provider may also recommend surgeries to prevent polyps from forming again. You may have:

• Ileoproctostomy to remove your large intestine and connect your rectum to your small intestine.
• Ileostomy to remove your rectum and connect your small intestine with your abdomen.
• Ileoanal anastomosisto connect your small intestine and anus.
• Colectomy to remove some or all of your large intestine.
• Proctocolectomy to remove your large intestine and rectum.

Brain or spinal cord tumor treatment may also vary. Healthcare providers generally try to remove the tumor. During treatment, they attempt to minimize damage to surrounding healthy tissue. You may have:

• Chemotherapy.
• Radiation therapy.
• Surgery.

How do I know if I’m at risk for Turcot syndrome?

If you have a parent with Turcot syndrome, there’s a chance you could have the condition. Or, you could be a genetic carrier for it. Being a genetic carrier means you don’t have symptoms of Turcot syndrome, but you have the gene that causes it and could pass it to your children.

If there’s a chance you could have Turcot syndrome, your healthcare provider may recommend DNA testing. A DNA test checks for the gene mutation associated with Turcot syndrome.

What is the outlook for Turcot syndrome?

Unfortunately, there’s no cure for Turcot syndrome. If you have Turcot syndrome, work with your healthcare provider to get regular screenings for brain tumors and colorectal cancer. Detecting cancer early increases the chances of a favorable outcome.

What else should I ask my doctor?

You may also want to ask your healthcare provider:

• What is the most likely cause of symptoms?
• What tests do I need to diagnose Turcot syndrome?
• Am I a genetic carrier for Turcot syndrome?
• What are the treatment options for Turcot syndrome?
• What may happen if I don’t get treatment?
• What are the chances I’ll have a child with Turcot syndrome?

Is glioblastoma hereditary?

No. Usually, glioblastomas form for no known reason. Sometimes, however, these tumors form in people who have hereditary conditions, such as Turcot syndrome.

A note from Cleveland Clinic

Turcot syndrome is a rare genetic disorder. It occurs because of inherited gene mutations. The primary symptoms of Turcot syndrome are intestinal polyps and brain or spinal cord tumors. Treatment varies based on symptoms. If you have Turcot syndrome, your healthcare provider may recommend surgery to remove part of your intestines. This procedure can prevent growths from forming. You may also need surgery to remove a brain or spinal cord tumor. Although there’s no cure for Turcot syndrome, regular symptom screenings, screening tests or procedures, and early treatment can help you manage the condition.