Turcot syndrome is a rare genetic disorder. It causes small growths (polyps) in your intestines and increases your risk of brain or spinal cord tumors. Turcot syndrome also increases your risk of colorectal cancer. Some experts classify Turcot syndrome as a type of familial adenomatous polyposis (FAP).
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.
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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.
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.
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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:
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.
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:
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:
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:
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To diagnose Turcot syndrome, your healthcare provider uses several tests to look at your brain and your intestines. You may have:
If you have a parent with Turcot syndrome, you’ll likely have screenings to check for the condition. Your healthcare provider may recommend:
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:
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:
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.
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.
You may also want to ask your healthcare provider:
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.
Last reviewed on 01/24/2022.
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Cleveland Clinic is a non-profit academic medical center. Advertising on our site helps support our mission. We do not endorse non-Cleveland Clinic products or services. Policy