Turcot Syndrome

Turcot Syndrome is a rare genetic disorder that primarily affects the brain and the colon. It causes people to develop multiple colon polyps, which are growths that can turn into cancer if untreated. At the same time, it increases the risk of developing certain types of brain tumors, especially in childhood or early adulthood. The condition involves changes in specific genes that control cell growth, leading to these abnormal growths. People with this syndrome often experience symptoms related to both the digestive system and the nervous system. Early detection is important because it helps manage the risks of cancer and neurological problems.

Turcot Syndrome is a hereditary cancer syndrome characterized by the coexistence of colorectal adenomas and primary brain tumors, typically glioblastomas or medulloblastomas. It results from germline mutations in DNA mismatch repair genes such as MLH1, MSH2, or PMS2, or in the APC gene, leading to defective DNA repair and genomic instability. This syndrome is considered a variant of Lynch syndrome or familial adenomatous polyposis depending on the underlying mutation. The major clinical significance lies in the high risk of early-onset colorectal cancer and aggressive central nervous system tumors. Patients often present with symptoms of bowel obstruction or neurological deficits. Surveillance and genetic counseling are critical due to the autosomal dominant inheritance pattern and cancer predisposition.