What is Turcot syndrome?

Updated: Jun 06, 2020
  • Author: Jaime Shalkow, MD, FACS; Chief Editor: Cameron K Tebbi, MD  more...
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Answer

This syndrome, also considered a variant of FAP, includes multiple pediatric brain tumors (eg, gliomas, ependymomas) in families that also have an increased risk of polyposis and colon cancer. All patients with this syndrome develop carcinoma of the colon as young adults. [12] Colonic adenocarcinomas occur in the colonic polyps and in the mucosa between the polyps. Patients may present with chronic bloody diarrhea, hypoproteinemia, weight loss, anemia, malnutrition, bowel obstruction, and intussusception.

Hamilton et al found that families with Turcot syndrome have mutations in APC or HNPCC genes. [26]  The type of brain tumor correlates with the mutations: medulloblastomas in APC -related mutations and microsatellite instability in families with glioblastoma multiforme. [10] In patients with a strong family history, begin diagnostic investigation during the second decade of life and continue annually.


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