Turcot syndrome


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Tur·cot syn·drome

(tur-kō'), [MIM*276300]
a rare and distinctive form of multiple intestinal polyposis associated with brain tumors; autosomal recessive inheritance, caused by mutation in one of the mismatch repair genes: either MLH1 on chromosome 3p, PMS2 on chromosome 7p, or the adenomatous polyposis coli gene (APC) on 5q.

Tur·cot syn·drome

(tur-kō'), [MIM*276300]
a rare and distinctive form of multiple intestinal polyposis associated with brain tumors; autosomal recessive inheritance, caused by mutation in one of the mismatch repair genes: either MLH1 on chromosome 3p, PMS2 on chromosome 7p, or the adenomatous polyposis coli gene (APC) on 5q.
Farlex Partner Medical Dictionary © Farlex 2012

Turcot syndrome

A widely used synonym for what is preferentially termed mismatch repair cancer syndrome, see there.
Segen's Medical Dictionary. © 2012 Farlex, Inc. All rights reserved.

Turcot syndrome

Oncology A syndrome characterized by multiple colon polyps and brain tumors–eg, ependymoma, glioblastoma, medulloblastoma
McGraw-Hill Concise Dictionary of Modern Medicine. © 2002 by The McGraw-Hill Companies, Inc.

Turcot,

Jacques, Canadian surgeon, 1914–.
Turcot syndrome - a rare and distinctive form of multiple intestinal polyposis associated with brain tumors.
Medical Eponyms © Farlex 2012
References in periodicals archive ?
Although the exact cause of the diseases is still unknown, several factors including rare hereditary disorders such as Turcot syndrome are believed to be its cause.
The differential diagnosis for CCS includes a number of other polyposis syndromes including Cowden's disease, Peutz-Jeghers syndrome, Turcot syndrome, and juvenile polyposis syndrome; however, compared to juvenile polyposis syndrome, CCS polyps are less pedunculated and demonstrate inflammatory cell infiltration in the lamina propria with associated edema [7].
These variant syndromes include Muir-Torre syndrome (autosomal dominant) due to MSH2 and MLH1 genes mutations and characterized by the presence of cutaneous manifestations (multiple sebaceous adenomas, epithelioma, and keratoacanthoma) associated with colorectal and endometrial cancers and Turcot syndrome (autosomal dominant) associated with
PMS2 mutations are associated with combined presence of multiple colorectal adenomas and glioblastomas (Turcot syndrome).
As a differential diagnosis, intestinal polyposis syndromes represent different types of FAP, including hereditary-mixed polyposis syndrome, Hamartomatous polyposis syndromes, and other variants such as Turcot syndrome.
These include Gorlin syndrome and the less common Turcot syndrome, which consists of medulloblastomas in conjunction with familial adenomatous polyposis and adenomatous polyposis coli [2].
These include Turcot syndrome, an inherited condition in which people are at an increased risk of adenomatous polyps (and thus, colon cancer) and brain tumors, and Peutz-Jeghers syndrome, a condition that leads to freckles around the mouth and sometimes on the hands and feet, as well as large polyps in the digestive tract and an increased risk of colon and other cancers at a young age.
FAP has several variant forms, including Turcot syndrome and Garden syndrome, which have other manifestations (e.g., brain tumors in Turcot syndrome) in addition to the typical colorectal polyps (Desai & Barkel, 2008).
Turcot Syndrome was originally described as a rare variant of FAP, in which brain tumors develop concurrently with those of the colon and rectum.
It is an advocacy group for families who have any one of the inherited forms of colon cancer, which include familial adenomatous polyposis or Gardner syndrome (FAP/GS), juvenile polyposis (JP), Peutz-Jeghers syndrome, hereditary non-polyposis colon cancer (HNPCC/Lynch syndrome) and Turcot syndrome. (See "Organizational Spotlight" in this issue for more information)
See also: Brain Injury, Cancer, Epilepsy, Turcot Syndrome, Von Hippel-Lindau Syndrome