Disease Information for Turcot syndrome

Clinical Manifestations
Signs & Symptoms
Blood in stool
Diarrhea and Weight Loss
Diarrhea, chronic
Diarrhea, recurrent
Hematochezia/Blood per Rectum
CNS symptoms/signs
Disease Progression
Course/Chronic disorder
Course/Chronic only
Demographics & Risk Factors
Family History
Family history/Cancer
Family history/Colon carcinoma
Family history/Colon polyp
Family history/Colon polyposis
Family History/Brain Tumor
Diagnostic Test Results
Other Tests & Procedures
Colonoscopy/Multiple polyps
X-RAY With contrast
BE/Colon polyp (Xray)
BE/Multiple colon polyps (Xray)
Associated Diseases & Rule outs
Rule Outs
Gardner syndrome
Associated Disease & Complications
Adenocarcinoma, colon
Adenomatous polyp/colon
Brain tumor
Brain tumor , malignant (astrocytoma)
Cancer in Children
Colon polyp
Gardner syndrome
Glioblastoma Multiforme
Intestinal polyp (small bowel)
Multiple colon polyps
Optic glioma
Turcot syndrome
Disease Mechanism & Classification
Pathophysiology/Gene locus 3p21.3
Pathophysiology/Gene locus 5q21-q22
Pathophysiology/Gene locus 7p22
Pathophysiology/Gene locus chromosome 3
Pathophysiology/Gene locus Chromosome 3p
Pathophysiology/Gene locus Chromosome 5
Pathophysiology/Gene locus Chromosome 7
Pathophysiology/Gene Locus Identified/OMIM database
Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)
Pathophysiology/Pre-cancerous condition
PROCESS/Autosomal recessive disorder (ex)
PROCESS/Eponymic (category)
PROCESS/Hereditofamilial (category)
PROCESS/Hereditofamilial/tumor syndrome (ex)
PROCESS/INCIDENCE/Esoteric disease (example)
PROCESS/Polyps (ex)
PROCESS/Familial polyposis/colon (ex)
Turcot syndrome, Synonym/Turcot/Gardner variant syndrome

Turcot"s syndrome;Also known as: Turcot-Després syndrome;

Turcot-Després-St Pierre syndrome; Colonic polyposis-malignant central nervous system tumor syndrome, glioma-polyposis syndrome, intestinal polyposis-glioma syndrome;

A rare, hereditary syndrome, characterized by brain tumors (glioblastoma, astrocytoma, or spongioblastoma) associated with colonic adenomatous polyposis; The polypi vary in number from hundreds to thousands and in size; occasionally they are found in the stomach and small intestine; In the fourth and fifth decades of life they are liable to become malignant; Other festures include Caf-au-lait spots, cutaneous port wine stain, diarrhoea, as well as focal nodular hyperplasia; Inheritance is autosomal recessive; The symptoms are most often in the second decade of life; Turcots syndrome has been divided in three groups depending on the number and character of the colonic polyps; Turcot, Després and St Pierre first described the syndrome in a brother and sister from a consanguinous marriage;

-----------------[whonamedit website 2005]-----------------

Turcot Syndrome; Brain tumor-polyposis syndrome;

Glioma-polyposis syndrome; Turcot syndrome is a rare inherited disorder characterized by the association of benign growths (adenomatous polyps) in the mucous lining of the gastrointestinal tract with tumors of the central nervous system; Symptoms associated with polyp formation may include diarrhea, bleeding from the end portion of the large intestine (rectum), fatigue, abdominal pain, and weight loss; Affected individuals may also experience neurological symptoms, depending upon the type, size and location of the associated brain tumor; Some researchers believe that Turcot syndrome is a variant of familial adenomatous polyposis; Others believe that it is a separate disorder; --------------------------[NORD 2005]--------------

TURCOT SYNDROME; Clinical Synopsis: Autosomal dominant;

ABDOMEN : Gastrointestinal and Adenomatous colonic polyps

Sebaceous cyst; Cafe au lait spots ; Hyperpigmented spots;

NEOPLASIA : Basal cell carcinoma; Ependymoma; Medulloblastoma; Glioblastoma; Papillary thyroid carcinoma ;

Leukemia; MISC: Onset of polyps in second decade; Onset of brain tumor in childhood; Families with medulloblastomas as feature often secondary to mutations in APC [adenomatous polyposis and colorectal carcinoma]; Families with glioblastomas as feature are secondary to HNPCC mutations [Non-Polyposis colorectal carcinoma];

----------------[OMIM website 2005]------------------

Background: Turcot"s syndrome is characterized clinically by the concurrence of a primary brain tumor and multiple colorectal adenomas;


External Links Related to Turcot syndrome
PubMed (National Library of Medicine)
NGC (National Guideline Clearinghouse)
Medscape (eMedicine)
Harrison's Online (accessmedicine)
NEJM (The New England Journal of Medicine)