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[edit | edit source]
here are two types of Turcot syndrome, which are caused by mutations in different genes.
Risk of cancer[edit | edit source]
People with Turcot syndrome have a higher-than-normal risk of colorectal cancer and brain cancer, especially glioblastoma and medulloblastoma.
Association with adenomatous polyposis[edit | edit source]
- 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[edit | edit source]
Turcot syndrome typically follows an autosomal recessive inheritance pattern.
Symptoms[edit | edit source]
5%-29% of people have these symptoms
- Agenesis of corpus callosum
- Gray matter heterotopia
Other symptoms[edit | edit source]
- 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[edit | edit source]
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[edit | edit source]
Ter-KOH SIN-drome
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NIH genetic and rare disease info[edit source]
Turcot syndrome is a rare disease.
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Contributors: Prab R. Tumpati, MD
