Turcot syndrome
نویسنده
چکیده
Other names: Malignant tumors of the central nervous system associated with familial polyposis of the colon. Note: Turcot syndrome (TS) is characterized by the association of colonic polyps and central nervous system tumors. The relative risk of cerebral tumor in patients with familial adenomatous polyposis is considered 92 times more that found in the general population. The predominant brain tumors are medulloblastoma and gliomas. Inheritance: Both autosomal dominant and autosomal recessive modes of inheritance have been described, based on the analysis of familial segregation of the disease and the results of molecular studies. Nevertheless, considering the low penetrance and rarity of TS, the involvement of a major gene in association with a second locus containing a modifier gene or of environmenmtal factors has been suggested.
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Turcot Syndrome
Turcot Syndrome This section has been reviewed and approved by the Cancer.Net Editorial Board [1], December / 2011 Overview What is Turcot syndrome? Turcot syndrome is a condition in which cells become abnormal and form masses called polyps. A polyp is benign (noncancerous) but can eventually turn malignant (cancerous, meaning it can spread to other parts of the body). Turcot syndrome is rare a...
متن کاملA Challenging Treatment Decision for a Rare Association: Case Report of Familial Turcot Syndrome With Fistulizing Crohn’s Disease
Turcot syndrome and fistulizing Crohn’s disease (CD) are two disease entities that are not usually associated with one another, particularly given the rarity of the former. This is a case of a pediatric patient with fistulizing CD treated with biologic therapy, who was later found to have Turcot syndrome. Management of this rare combination of diseases can present several challenges, as surgica...
متن کامل[Turcot syndrome--a rare extra-intestinal manifestation of familial adenomatous polyposis?].
The case of a 15-year-old male with Turcot syndrome is presented. When the patient was aged 10 years a medulloblastoma was diagnosed. Five years later he developed multiple adenomatous polyps of the colon and multiple "congenital hypertrophy of the retina" (CHRPE), the most common extraintestinal manifestation of FAP, were described. Family history revealed familial adenomatous polyposis with 1...
متن کاملCase Reports: Pinealoblastoma in a Patient With Familial Adenomatous Polyposis: Variant of Turcot Syndrome Type 2? Report of a Case and Review of the Literature
Pinealoblastoma in a Patient With Familial Adenomatous Polyposis: Variant of Turcot Syndrome Type 2? Report of a Case and Review of the Literature T. Gadish, B.A., H. Tulchinsky, M.D., A. A. Deutsch, M.D., M. Rabau, M.D. 1 Proctology Unit, Department of Surgery “B,” Tel-Aviv Sourasky Medical Center, Tel-Aviv, Israel 2 Department of Surgery, Maayanei Hayeshua Hospital, Bnei-Brak, affiliated to t...
متن کاملTurcot Syndrome: A Synchronous Clinical Presentation of Glioblastoma Multiforme and Adenocarcinoma of the Colon
Turcot syndrome (TS) is a rare hereditary disorder clinically characterized by the occurrence of primary tumors of the colon and the central nervous system (CNS). Here we present the case of an 11-year-old boy with a synchronous clinical presentation of both glioblastoma multiforme (GBM) and colonic adenocarcinoma. A molecular genetic study revealed microsatellite instability in the DNA mismatc...
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