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Turcot Syndrome (named after Jacques Turcot; 1959) also known as Mismatch repair cancer syndrome (MMRCS) is a rare, inherited disorder in which cells become abnormal and form masses called polyps.[1] Polyps are benign (noncancerous) but can become malignant (cancerous), and spread to other parts of the body.[1] Turcot syndrome is considered to be an alternative form of two other polyp formation syndromes: Lynch syndrome and familial adenomatous polyposis (FAP). [1]
The two most common types of brain tumours in Turcot syndrome are:
- Glioblastoma. This is a progressive form of astrocytoma, which is a type of brain cancer originating from astrocytes. It is commonly found in families showing characteristics of Lynch syndrome. [2]
- Medulloblastoma. This begins in the cerebellum and often occurs in children and families showing characteristics of FAP. [2]
Genetics[edit]
Turcot syndrome is a genetic condition which can be passed down generation to generation. Families who have a history of glioblastoma and show characteristics of Lynch syndrome have mutations in the MLH1 and PMS2 genes.[3] Both the MLH1 and PMS2 genes provide instructions for making proteins involved in DNA repair. The MLH1 and PM2S proteins join to form a protein complex. This complex coordinates activities of other proteins that repair mistakes made during DNA replication.[4]
Families who have a history of medulloblastoma and show characteristics of FAP have mutations in the APC gene.[2] The APC gene provides instructions for making the APC protein, which plays a key role in cellular processes. It acts as a tumour suppressor, stopping cells from growing and dividing uncontrollably.[5]
Turcot syndrome is also linked to mutations in the MSH2 and MSH6 genes. [3] The MSH2 and MSH6 genes provide instructions for making proteins involved in DNA replication.[6] They join to form a protein complex, which identifies locations on the DNA where mistakes are being made.[6] The MLH1-PMS2 protein complex then repairs the errors. [6]
Diagnosis[edit]
Individuals are given a blood test to look for a mutation in the APC gene associated with FAP or the MLH1 gene associated with Lynch syndrome. [7] Additionally, in suspected cases of Turcot syndrome, individuals may be tested for a mutation in the PMS2 gene.[7]
If a gene mutation is detected, then the same genetic test is done with other family members to look for a common abnormality pattern. If a common pattern is detected, then it is inferred that the individual has Turcot syndrome.[7] However, some individuals who appear to have Turcot syndrome may not have detectable gene mutations.[7]
Aside from genetic tests, colonoscopy, biopsy of the tumor tissue and X-ray of the CNS for detecting brain tumour is conducted.[7]
Signs and Symptoms[edit]
| Signs and Symptoms | Approximate number of
patients (when available) |
| Abdominal pain | 90% |
| Constipation | 90% |
| Gastrointestinal hemorrhage | 90% |
| Glioma | 90% |
| Malabsorption | 90% |
| Neoplasm of the colon | 90% |
| Weight loss | 90% |
| Attention deficit hyperactivity disorder | 50% |
| Hypertonia | 50% |
| Increased intracranial pressure | 50% [8] |
Treatment[edit]
Treatments start with screening for colon cancer using colonoscopy on a regular basis. The frequency and starting age is dependent on the gene mutation. People with APC gene mutation start colonoscopies at around 10.[7][9] People with a MLH1 or PMS2 gene mutation start colonoscopies in their early 20s.[10][9] They have one every one to two years.[10][9] If there are polyps, individuals have a colectomy.[9] Colectomy is when the colon or part of the colon is surgically removed.[9]
Individuals with Turcot syndrome are encouraged to test for the presence of a brain tumour via neurological screening.[7][9] The treatment of a brain tumor is specific to the size and type of brain tumour. It may include surgery to remove as much of the tumour as possible without damaging surrounding tissues.[9] Radiation and/or chemotherapy treatments often follow surgery.[9][10]
Genetic counseling is also offered to individuals and family members.[9]
Synonyms[edit]
Related Diseases[edit]
- Gardner syndrome is an association of hereditary intestinal polyps, osteomas (typically of the skull), papillary thyroid cancer, and desmoid tumors.
- Peutz–Jeghers syndrome is a rare, inherited gastrointestinal disorder classified by polyps development on intestinal mucous lining and discoloration on the skin and mucous membranes.[1]
- Cronkhite–Canada syndrome is a rare gastrointestinal disorder classified by the formation of polyps in the intestines, loss of scalp hair, discoloration of patches of skin and loss of finger and/or toenails.[1]
References[edit]
- ^ a b c d e f g "Turcot Syndrome - NORD (National Organization for Rare Disorders)". NORD (National Organization for Rare Disorders). Retrieved 2016-10-30.
- ^ a b c "Turcot Syndrome". Cancer.Net. 2012-06-25. Retrieved 2016-10-30.
- ^ a b "Turcot syndrome". atlasgeneticsoncology.org. Retrieved 2016-10-30.
- ^ Reference, Genetics Home. "MLH1 gene". Genetics Home Reference. Retrieved 2016-11-19.
- ^ Reference, Genetics Home. "APC gene". Genetics Home Reference. Retrieved 2016-11-19.
- ^ a b c Reference, Genetics Home. "MSH2 gene". Genetics Home Reference. Retrieved 2016-11-19.
- ^ a b c d e f g "Turcot Syndrome - Treatment, Symptoms, Diagnosis, What is?". syndromespedia.com. Retrieved 2016-11-20.
- ^ "Turcot syndrome | Genetic and Rare Diseases Information Center(GARD) – an NCATS Program". rarediseases.info.nih.gov. Retrieved 2016-11-20.
- ^ a b c d e f g h i "Turcot syndrome - Treatment: Is there a treatment(s) for Turcot syndrome? | ThinkGenetic". thinkgenetic.com. Retrieved 2016-11-20.
- ^ a b c Dipro, Sabiq; Al-Otaibi, Faisal; Alzahrani, Adel; Ulhaq, Anwar; Al Shail, Essam (2012-01-01). "Turcot Syndrome: A Synchronous Clinical Presentation of Glioblastoma Multiforme and Adenocarcinoma of the Colon". Case Reports in Oncological Medicine. 2012. doi:10.1155/2012/720273. ISSN 2090-6706. PMC 3479943. PMID 23119205.
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