Definition

What is Turcot syndrome?

Turcot syndrome is an extremely rare inherited pathological condition which is characterized by development of numerous adenomatous polyps along the mucous lining of the gastrointestinal tract. These polyps are benign. In some cases there may also be development of tumors within the nervous system.

How common is Turcot syndrome?

Turcot syndrome is uncommon. It affects males and females in equal numbers. Approximately 150 cases have been reported in the medical literature. Please discuss with your doctor for further information.

Symptoms

What are the symptoms of Turcot syndrome?

Turcot syndrome is characterized by the formation of multiple benign growths (polyps) in the colon that occur in association with a primary brain tumor. These growths are associated with:

  • Rectal bleeding
  • Alternating diarrhea and constipation
  • Pain in the abdomen
  • Unintentional weight loss

The number and size of these polyps may vary greatly from case to case, ranging from fewer than 10 to more than 100.

Some researchers have separated Turcot syndrome into two forms:

Type I Turcot syndrome has less than 100 polyps. These polyps are large in size and more likely to become malignant (cancerous).

Type 2 is characterized by smaller, more numerous colonic polyps.

Individuals with Turcot syndrome often have neurological abnormalities that vary, depending upon the type, size, and location of the associated brain tumor. In cases of Turcot syndrome, the brain tumor is often a glioma. Additional brain tumors that have been associated with Turcot syndrome include medulloblastomas, glioblastomas, ependymomas, and astrocytomas. Medulloblastomas occur with greater frequency in the type 2 form of Turcot syndrome.

Additional symptoms associated with Turcot syndrome include:

  • Small, coffee-colored spots on the skin (cafe-au-lait spots)
  • Multiple, benign fatty tumors (lipomas)
  • Development of basal cell carcinomacharacterized by the formation of small, shiny, firm masses of tissues (nodules); flat, scar-like lesions (plaques); or red patches covered by thick, dry, silvery scales on the skin.

There may be some symptoms not listed above. If you have any concerns about a symptom, please consult your doctor.

When should I see my doctor?

If you have any signs or symptoms listed above or have any questions, please consult with your doctor. Everyone’s body acts differently. It is always best to discuss with your doctor what is best for your situation.

Causes

What causes Turcot syndrome?

The exact cause of Turcot syndrome is not known.

Type I of Turcot syndrome follows an autosomal recessive pattern of inheritance whereas Type II of Turcot syndrome follows an autosomal dominant pattern of inheritance.

The gene responsible for Type I Turcot syndrome is the MLH1 and PMS2 gene. The function of these genes is to repair damaged DNA.

Type II Turcot syndrome is caused by the mutations in the APC gene. The function of this gene is to suppress tumor progression and mutation in this gene results in tumor progression seen with Turcot syndrome.

Risk factors

What increases my risk for Turcot syndrome?

Please consult with your doctor for further information.

Diagnosis & treatment

The information provided is not a substitute for any medical advice. ALWAYS consult with your doctor for more information.

How is Turcot syndrome diagnosed?

A diagnosis of Turcot syndrome is made based upon a detailed patient history, a thorough clinical evaluation, and a variety of specialized tests. Because children of an affected parent have a genetic risk of developing Turcot syndrome, regular screening via sigmoidoscopy is required until approximately age 35 to 40 to help ensure early detection and prompt, appropriate treatment. During sigmoidoscopy, a viewing instrument is used to examine the rectum and the last part of the large intestine (sigmoid colon). In addition, in some cases, DNA testing may be available to help detect family members who have inherited certain changes (mutations) of the APC gene or DNA mismatch repair genes, potentially diagnosing the disorder before polyp development. In addition, x-rays of the large intestine may reveal the presence of polyps. X-rays of the brain may reveal the presence of a central nervous system tumor.

Diagnostic testing for Turcot syndrome also includes direct visual examination of the intestines by the insertion of a flexible, tube-like instrument (colonoscope) into the rectum (colonoscopy) or the removal and microscopic examination of small samples of rectal tissue (biopsy).

How is Turcot syndrome treated?

The treatment of Turcot syndrome is directed toward the specific symptoms that are apparent in each individual. Surgical removal of the large intestine and the rectum (proctocolectomy) may prevent the risk of such malignancies. However, if procedures are performed to remove the large intestine and surgically join the rectum and small intestine (ileoproctostomy), rectal polyps may regress. Therefore, some physicians may recommend such procedures as an alternative to proctocolectomy. In such cases, the remaining rectal region must be regularly examined through sigmoidoscopy to ensure prompt detection and surgical removal or destruction of any new polyps.

In some affected individuals, rapid development of new polyps may necessitate additional surgical treatment, such as removal of the rectum and surgical creation of a connection between the small intestine and the abdominal wall (ileostomy). In other cases, physicians may initially recommend other surgical procedures, such as a technique in which the large intestine is removed (colectomy) and the small intestine and the anus are surgically joined (ileoanal anastomosis).

Affected individuals should also receive periodic neurological screenings to test for the presence of a brain tumor. Treatment for brain tumors depends upon the type, size, and location of the tumor. It may include surgery to remove as much of the tumor as is possible without causing damage to the surrounding tissue. Surgery is often followed or accompanied by radiation and/or chemotherapy treatments.

Genetic counseling may be of benefit for affected individuals and their families. Other treatment is symptomatic and supportive.

Lifestyle changes & home remedies

What are some lifestyle changes or home remedies that can help me manage Turcot syndrome?

If you have any questions, please consult with your doctor to better understand the best solution for you.

Hello Health Group does not provide medical advice, diagnosis or treatment.

Sources

Review Date: February 22, 2018 | Last Modified: February 22, 2018

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