Turcot Syndrome

Turcot syndrome (pronounced “tur-KOH”) is an extremely 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 tumors, you may have neurological symptoms, like headaches, blurred vision or trouble with balance.

In addition to treating your symptoms, your healthcare provider will monitor you closely if you have this condition. Turcot syndrome increases your cancer risk, especially your risk of colon cancer and malignant brain tumors. Your provider will work to detect tumors early, when treatments work best.

Types of this condition

There are two types:

• Type 1: This type forms because of changes (mutations) in the MMR genes. These genes repair damaged DNA. Problems with the repair process can increase a person’s cancer risk. 
• Type 2: This type occurs because of APC gene mutations. The APC gene’s role is to keep tumors from forming or growing. It tends to cause several smaller polyps — more than in type 1.

Mutations in MMR and APC genes also happen in the two most common inherited colon cancers:

• Hereditary non-polyposis colorectal cancer (HNPCC) involves MMR mutations. This is also known as Lynch syndrome.
• Familial adenomatous polyposis (FAP) involves APC mutations. Gardner syndrome is a type of FAP. Like Turcot syndrome, it causes many polyps. 

Turcot syndrome isn’t the same as these conditions. But they’re related because of the shared gene mutations and symptoms.

Symptoms of Turcot syndrome

The most common signs of this condition are polyps in your intestines 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

How many polyps you have can vary. Polyps in your intestines may cause:

• Belly pain
• Bloody stools
• Constipation
• Diarrhea
• Weight loss

Symptoms of brain tumors due to Turcot syndrome

Brain or spinal cord tumors may cause symptoms like:

• Balance problems
• Headaches
• Nausea or vomiting
• Numbness in your hands, feet or limbs
• Seizures
• Vision issues, including double vision or blurred vision
• Weakness on one side of your body

The most common types of brain tumors linked to Turcot syndrome are:

• Astrocytoma
• Ependymoma
• Glioma
• Medulloblastoma

Other tumors and skin problems

This condition can lead to fatty, noncancerous growths called lipomas. Sometimes, it causes small brown spots on your skin (café-au-lait spots). Turcot syndrome also increases the risk of basal cell carcinoma (a form of skin cancer).

Turcot syndrome causes

Turcot syndrome is an inherited genetic disorder. This means it occurs because of a gene mutation passed down from your biological parents. Depending on the type of Turcot syndrome, it involves inheriting mutations in MMR genes (type 1) or APC genes (type 2). 

You need to inherit two gene mutations (one from each parent) to develop Turcot syndrome type 1. You only need to inherit one gene mutation to develop Turcot syndrome type 2.

How doctors diagnose this condition

To diagnose Turcot syndrome, your healthcare provider will consider your symptoms and medical history. A family history of early-onset colon cancer (before age 50) or a history of brain or spinal cord tumors may make your provider suspect that a genetic disease runs in your family.

Genetic testing can show if you have a mutation linked to Turcot syndrome.

You may also need tests so your provider can check for growths in your brain and intestines. Tests may include:

• X-rays, MRIs and CT scans to look for brain tumors or polyps in your intestines. Your provider may recommend a PET scan in some cases.
• Colonoscopy to look for irregularities in your large intestine (colon) or rectum. 
• A biopsy to remove and test small pieces of tissue from your colon or brain tumor. It can show if a growth is cancerous.

How is Turcot syndrome treated?

Treatment depends on your symptoms.

If you have polyps, a gastroenterologist can remove them. You may need surgery to prevent polyps from forming again and turning into cancer. These procedures remove parts of your digestive system. Depending on the procedure, you may need an ostomy bag to help you poop or pee. Your provider will work with you to help you adjust. Procedures include:

• Colectomy: Removes some or all of your large intestine
• Proctocolectomy: Removes your large intestine and rectum

Brain or spinal cord tumor treatment may also vary. Neurosurgeons generally try to remove the tumor. During treatment, they’ll take care to minimize damage to surrounding healthy tissue. You may have:

• Surgery to cut out the tumor
• Radiation therapy to destroy the tumor using powerful X-rays
• Immunotherapy that helps your immune system kill tumor cells
• Chemotherapy to kill tumor cells with powerful drugs

What can I expect if I have this condition?

There’s no cure for Turcot syndrome. And it’s so rare that researchers are still learning about what the outlook is for most people who have it.

But doctors do know that detecting abnormal growths early increases the chances of a good outcome. It’s important to remove polyps that cause symptoms or that may progress to colon cancer. It’s important to treat brain tumors before they grow or spread.

Your healthcare provider will recommend a screening schedule to detect abnormal growths that may arise. It’s always better to remove polyps, brain or spinal cord tumors before they cause symptoms you feel. The growths are often smaller and more treatable at this point.

Can this be prevented?

If you have Turcot syndrome or carry the genes for it, you could pass the condition on to a biological child. When this is the case, you can seek genetic counseling before trying to have a baby. A counselor can help you assess how likely it is that your child will inherit the condition. They can suggest options to help you plan your pregnancy.

There’s no way to cure the mutation if you already have it. But regular cancer screenings may allow your healthcare provider to diagnose cancer or brain tumors early. They can take steps to prevent benign growths (like polyps) from becoming cancer. Early treatment leads to better outcomes.