Turcot syndrome

Turcot syndrome is a rare genetic condition that affects the gastrointestinal system leading to polyps in the colon and rectum. Also, tumors may form in the brain.

Types

here are two types of Turcot syndrome, which are caused by mutations in different genes.

Risk of cancer

People with Turcot syndrome have a higher-than-normal risk of colorectal cancer and brain cancer, especially glioblastoma and medulloblastoma.

Association with adenomatous polyposis

• It may be associated with familial adenomatous polyposis (FAP) or Lynch syndrome (also known as hereditary non-polyposis colorectal cancer or HNPCC).
• The molecular basis of most Turcot syndrome is either a mutation in APC associated with FAP or a mutation in one of the mismatch repair genes associated with Lynch syndrome (MLH1 and PMS2).
• The brain tumors in individuals with APC mutations are typically medulloblastoma, whereas those with mismatch repair mutations are usually glioblastoma multiforme.

Inheritance

Turcot syndrome typically follows an autosomal recessive inheritance pattern.

Autosomal recessive

Symptoms

5%-29% of people have these symptoms

• Agenesis of corpus callosum
• Gray matter heterotopia

Other symptoms

• Abnormal abdomen morphology
• Astrocytoma
• Axillary freckling
• Basal cell carcinoma
• Cafe-au-lait spot
• Ependymoma
• Glioblastoma multiforme
• Hypermelanotic macule
• Hyperpigmented spots
• Leukemia
• Lymphom
• Medulloblastoma
• Neuroblastoma
• Cancer of early nerve cells
• Rhabdomyosarcoma

Diagnosis

Making a diagnosis for a genetic or rare disease can often be challenging. ing a diagnosis, you should contact a healthcare professional. Diagnosis is made with thorough history, clinical examination, blood tests, imaging studies such as CT, MRI scans, colonoscopy, skin examination for Cafe-au-lait spot.

Pronunciation

Ter-KOH SIN-drome

Turcot syndrome Resources
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NIH genetic and rare disease info

• NIH info on Turcot syndrome

Turcot syndrome is a rare disease.