The Rare Disease Turcot Syndrome

The rare condition known as mismatch repair cancer syndrome, or Turcot syndrome, was first described in 1959 by Jacques Turcot, a French scientist. The syndrome results in tumors in the brain and central nervous system, as well as polyps and tumors in the colon. People with Turcot syndrome are at elevated risk for developing colorectal cancer. The disease occurs when a mutation in the genes that help repair flaws in DNA replication causes those genes to be ineffective.

Symptoms include:

  • Diarrhea
  • Abdominal pain
  • Weight loss
  • Cognitive difficulties as a result of the central nervous system effects
  • Behavioral changes caused by brain tumors

There are about fewer than 2,000 people with the condition in the United States.

Rare among genetic diseases, the mutation that causes Turcot is dominant, meaning there are no asymptomatic carriers, and children who have one parent with the disease have a 50 percent chance of having it themselves. The condition usually manifests during the teen years, but genetic testing can look for the mutations involved before that if someone may be at risk.

There is no cure for the condition, but genetic research is ongoing. The polyps can be surgically removed, but may be too numerous for this to be effective. Cancer screening is recommended, because Turcot patients are at elevated risk for colorectal cancer, and a brain tumor called glioblastoma.

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