Malignant Central Nervous System (CNS) Tumors Associated with Familial Polyposis of Colon

Malignant Central Nervous System (CNS) Tumors Associated with Familial Polyposis of Colon

Contributed byMaulik P. Purohit MD MPHJul 11, 2017

The topic Malignant Central Nervous System (CNS) Tumors Associated with Familial Polyposis of Colon you are seeking is a synonym, or alternative name, or is closely related to the medical condition Turcot Syndrome.

Quick Summary:

  • Turcot Syndrome is a rare genetic disorder that is characterized by non-cancerous growths (or polyps) in the gastrointestinal tract. Even though the polyps may be initially benign, some tumors may transform into cancer over time. Also, the number of polyps in the colon may increase with time
  • Primary tumors can also occur in the brain simultaneously. The types of brain tumor commonly observed in Turcot Syndrome are glioblastoma and medulloblastoma
  • Mutations in APC, MLH1 or PMS2 genes are known to cause Turcot Syndrome. The disorder may either be inherited in an autosomal recessive or autosomal dominant manner
  • The symptoms of the condition may include formation of benign liver nodules, anemia, diarrhea, rectal bleeding, and fatigue. Changes in skin, in the form of coffee-colored spots, sebaceous cysts, and basal cell carcinoma may also occur. Additionally, brain tumors may give rise to headaches, vision abnormalities, balance issues and seizures
  • The diagnosis of Turcot Syndrome is made on the basis of imaging studies for detecting tumors, and blood tests to check for mutation(s) in the genes that are known to cause the condition
  • Treatment methods are aimed at providing relief from symptoms, preventing tumor growth, and minimizing complications, such as polyp bleeding and tumors becoming malignant
  • Being an inherited condition, presently there is no cure for Turcot Syndrome. Also, without proper diagnosis and treatment, the life expectancy can be affected. If colon cancer or brain tumors develop, the prognosis may be guarded

Please find comprehensive information on Turcot Syndrome regarding definition, distribution, risk factors, causes, signs & symptoms, diagnosis, complications, treatment, prevention, prognosis, and additional useful information HERE.

What are some Useful Resources for Additional Information on Malignant Central Nervous System (CNS) Tumors Associated with Familial Polyposis of Colon? 

American Cancer Society (ACS)
1599 Clifton Road, NE Atlanta, GA 30329-4251
Toll-Free: (800) 227-2345
TTY: (866) 228-4327
Website: http://www.cancer.org

National Cancer Institute (NCI)
U.S. National Institutes of Health
Public Inquiries Office
Building 31, Room 10A03
31 Center Drive, MSC 8322 Bethesda, MD 20892-2580
Phone: (301) 435-3848
Toll-Free: (800) 422-6237
TTY: (800) 332-8615
Email: cancergovstaff@mail.nih.gov
Website: http://www.cancer.gov

National Organization for Rare Disorders (NORD)
55 Kenosia Avenue Danbury, CT 06810
Phone: (203) 744-0100
Toll-Free: (800) 999-6673
Fax: (203) 798-2291
Email: orphan@rarediseases.org
Website: http://www.rarediseases.org

Cancer Research UK
Cancer Research UK Angel Building
407 St John St. London EC1V 4AD
Phone: 0300 123 1022
Fax: 020 3469 6400
Email: supporter.services@cancer.org.uk
Website: http://www.cancerresearchuk.org

References and Information Sources used for the Article on Malignant Central Nervous System (CNS) Tumors Associated with Familial Polyposis of Colon:

Sarin, S., & Bernath, A. (2008). Turcot syndrome (glioma polyposis): a case report. Southern medical Turcot Syndrome. (n.d.). Retrieved February 24, 2017, from https://rarediseases.org/rare-diseases/turcot-syndrome/

(n.d.). Retrieved February 27, 2017, from https://rarediseases.info.nih.gov/diseases/420/turcot-syndrome

Turcot Syndrome. (n.d.). Retrieved February 28, 2017, from http://www.cancer.net/cancer-types/turcot-syndrome/citurcot-syndromecancer

MLH1 gene - Genetics Home Reference. (n.d.). Retrieved March 01, 2017, from https://ghr.nlm.nih.gov/gene/MLH1

PMS2 gene - Genetics Home Reference. (n.d.). Retrieved March 01, 2017, from https://ghr.nlm.nih.gov/gene/PMS2

APC gene - Genetics Home Reference. (n.d.). Retrieved March 01, 2017, from https://ghr.nlm.nih.gov/gene/APC

Helpful Peer-Reviewed Medical Articles on Malignant Central Nervous System (CNS) Tumors Associated with Familial Polyposis of Colon:

Rumilla, K. M. (2016). Familial Adenomatous Polyposis and Turcot and Peutz–Jeghers Syndromes. In Molecular Pathology in Clinical Practice (pp. 329-337). Springer International Publishing.

Taylor, M. D., Mainprize, T. G., & Rutka, J. T. (2000). Molecular insight into medulloblastoma and central nervous system primitive neuroectodermal tumor biology from hereditary syndromes: a review. Neurosurgery, 47(4), 888-901.

Trimbath, J. D., Petersen, G. M., Erdman, S. H., Ferre, M., Luce, M. C., & Giardiello, F. M. (2001). Cafe-au-lait spots and early onset colorectal neoplasia: a variant of HNPCC?. Familial cancer, 1(2), 103-108.

Attard, T. M., Giglio, P., Koppula, S., Snyder, C., & Lynch, H. T. (2007). Brain tumors in individuals with familial adenomatous polyposis. Cancer, 109(4), 761-766.

Lebrun, C., Olschwang, S., Jeannin, S., Vandenbos, F., Sobol, H., & Frenay, M. (2007). Turcot syndrome confirmed with molecular analysis. European journal of neurology, 14(4), 470-472.

Johansson, G., Andersson, U., & Melin, B. (2016). Recent developments in brain tumor predisposing syndromes. Acta oncologica, 55(4), 401-411.

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Maulik P. Purohit MD MPH picture
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Maulik P. Purohit MD MPH

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