Turcot syndrome (TS), also known as brain tumor-polyposis syndrome (BTPS) was initially described in 1959 by Turcot [1] [2] [3]. It is characterized by central nervous system tumors like glioblastoma and medulloblastoma with colorectal polyps and adenocarcinoma of the colon. The syndrome is classified into two types [4] [5]:

• TS or BTPS Type I: characterized by glioblastoma, relatively few colorectal polyps, and genetic defects which are present in hereditary nonpolyposis colon cancer (HNPCC). It is inherited in an autosomal recessive pattern. The risk of colorectal cancer in these patients is greater than 50%. Although parents of affected individuals may be asymptomatic, their siblings may suffer from the same condition.

• TS or BTPS Type II: characterized by genetic defects which are present in familial adenomatous polyposis (FAP), numerous (hundreds or more than thousand) colorectal polyps, and a high risk of arising of medulloblastoma. This type is frequently inherited in an autosomal dominant pattern and affects several generations of the same family.

Not all patients can be classified simply into one of these two types [6] [7]. The occurrence of synchronous tumors has been associated with a poor prognosis [8].

Patients present in their teens with nonspecific symptoms and signs. Gastrointestinal manifestations like diarrhea, rectal bleeding, and abdominal pain occur in patients with colorectal polyps or colon cancer, while headache, vomiting, and seizures are the clinical features of patients with brain tumors.

Affected individuals may also develop other conditions such as malignant tumors of the thyroid or adrenal gland, basal cell carcinomas, cafe-au-lait spots, and lipomas [4] [9].

• Familial Adenomatous Polyposis

  In familial adenomatous polyposis there is a germ-line alteration of the adenomatous polyposis coli (APC) gene10-18; mutations of the gene can be detected in about 80 percent of families with familial adenomatous polyposis.17 The condition has an autosomal [nejm.org]

  Pathophysiology The relative risk of cerebellar medulloblastoma in patients with familial adenomatous polyposis is 92 times that of the general population. [accessanesthesiology.mhmedical.com]

  Multiple, bilateral patches of CHRPE have been reported in patients with familial adenomatous polyposis and Gardner syndrome. [ncbi.nlm.nih.gov]

  […] syndrome, glioma-polyposis syndrome, familial adenomatous polyposis coli, and hereditary nonpolyposis colorectal cancer. [medlink.com]

• Fatigue

  Página 48 - Our neighbours, the Indian and Mulatto inhabitants of the open palmthatched huts, as we returned home fatigued with our ramble, were either asleep in their hammocks or seated on mats in the shade, too languid even to talk. ‎ [books.google.es]

  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. [dovemed.com]

  Symptoms associated with polyp formation may include diarrhea, bleeding from the end portion of the large intestine (rectum), fatigue, abdominal pain, and weight loss. [rarediseases.org]

• Painter

  PMID 25648859 54 Tomaras C, Painter DM, Basha NJ, Koorey DJ. Case report: an inherited APC mutation in the first reported Australian case of Turcot’s syndrome. J Gastroenterol Hepatol 1998;13:401-4. PMID 9641305 55 Torres CF, Korones DN, Pilcher W. [medlink.com]

• Diarrhea

  Gastrointestinal manifestations like diarrhea, rectal bleeding, and abdominal pain occur in patients with colorectal polyps or colon cancer, while headache, vomiting, and seizures are the clinical features of patients with brain tumors. [symptoma.com]

  Diarrhea. Rectal bleeding. Weight loss. Symptoms of brain tumors due to Turcot syndrome Brain or spinal cord tumors may cause symptoms that affect your central nervous system. [my.clevelandclinic.org]

  Symptoms include: Diarrhea Abdominal pain Weight loss Cognitive difficulties as a result of the central nervous system effects Behavioral changes caused by brain tumors There are about fewer than 2,000 people with the condition in the United States. [medexsupply.com]

  These growths are associated with bleeding from the rectum, diarrhea, constipation, abdominal pain, and/or weight loss. The number and size of these polyps may vary greatly from case to case, ranging from fewer than 10 to more than 100. [thinkgenetic.com]

  Symptoms associated with polyp formation may include diarrhea, bleeding from the end portion of the large intestine (rectum), fatigue, abdominal pain, and weight loss. [rarediseases.org]

• Abdominal Pain

  These growths are associated with bleeding from the rectum, diarrhea, constipation, abdominal pain, and/or weight loss. The number and size of these polyps may vary greatly from case to case, ranging from fewer than 10 to more than 100. [thinkgenetic.com]

  Gastrointestinal manifestations like diarrhea, rectal bleeding, and abdominal pain occur in patients with colorectal polyps or colon cancer, while headache, vomiting, and seizures are the clinical features of patients with brain tumors. [symptoma.com]

  Symptoms include: Diarrhea Abdominal pain Weight loss Cognitive difficulties as a result of the central nervous system effects Behavioral changes caused by brain tumors There are about fewer than 2,000 people with the condition in the United States. [medexsupply.com]

  Patients who develop colon cancer can have symptoms such as abdominal pain, a change in stool habits, or the presence of blood in the stool. [wisegeek.com]

  Symptoms associated with polyp formation may include diarrhea, bleeding from the end portion of the large intestine (rectum), fatigue, abdominal pain, and weight loss. [rarediseases.org]

• Nausea

  A previously healthy 9-year-old girl presented with ataxia, headaches, and nausea of 1 month's duration. Magnetic resonance imaging demonstrated a large posterior fossa mass. [ncbi.nlm.nih.gov]

  […] deficit hyperactivity disorder (50%) Hypertonia- increase in muscle tension and a reduced ability of a muscle to stretch (50%) Increased intracranial pressure- pressure inside of the skull (50%) Migraine (50%) Muscular hypotonia-low muscle tone (50%) Nausea [thinkgenetic.com]

  Symptoms & Signs Some symptoms of the syndrome include headache, vomiting, nausea, personality & behavior changes, mood swings, loss of memory, seizures, reduced alertness, vision problems, hearing loss, decreased sensation of a body area, lethargy, general [signssymptoms.org]

  Nausea or vomiting. Seizures. Vision problems, including double vision or blurred vision. Weakness in one part of your body, such as one arm or leg or one side of your body. [my.clevelandclinic.org]

  Symptoms include diarrhea, weight loss, nausea,vomiting, and anorexia, as well as paresthesias,seizures, and tetany related to electrolyteabnormalities. [slideshare.net]

• Hematochezia

  A 67-year-old woman presented with hematochezia and an episode of transient expressive dysphasia. She was found to have multiple colonic polyps with adenocarcinomatous changes. [ncbi.nlm.nih.gov]

• Blood in Stool

  A flexible tube with a light and a camera is inserted through the anus for this procedure Screening colonoscopy to determine the presence of multiple polyps, if any Fecal occult blood test (FOBT) to check for blood in stool, which may be indicative of [dovemed.com]

• Cafe-Au-Lait Spots

  She also had multiple cafe-au-lait spots. [genome.jp]

  Affected individuals may also develop other conditions such as malignant tumors of the thyroid or adrenal gland, basal cell carcinomas, cafe-au-lait spots, and lipomas. [symptoma.com]

  The occurrence of colorectal cancer occurs later in TS2 than in TS1, and the skin lesions look more like epidermal cysts rather than cafe au lait spots, if present at all. [ncbi.nlm.nih.gov]

  Additional non-cancerous symptoms associated with Turcot syndrome include small, coffee-colored spots on the skin (cafe-au-lait spots), the formation of multiple, benign fatty tumors (lipomas), and/or the development of a type of skin cancer known as [thinkgenetic.com]

  Cell 126:297–308 PubMed CrossRef Google Scholar Korf BR (1992) Diagnostic outcome in children with multiple cafe au lait spots. [doi.org]

• Axillary Freckling

  Both children had features of neurofibromatosis type 1 including atypical café au lait spots and axillary freckling without a family history consistent with neurofibromatosis type 1, familial adenomatous polyposis, or hereditary nonpolyposis colorectal [ncbi.nlm.nih.gov]

  freckling, and hyperpigmented spots. [hindawi.com]

  freckling 0000997 Basal cell carcinoma 0002671 Cafe-au-lait spot 0000957 Ependymoma 0002888 Glioblastoma multiforme 0012174 Hypermelanotic macule Hyperpigmented spots 0001034 Leukemia 0001909 Lymphoma Cancer of lymphatic system 0002665 Medulloblastoma [rarediseases.info.nih.gov]

  MISMATCH REPAIR DEFICIENCY, MMR DEFICIENCY, TURCOT SYNDROME Classification genetic, immunological, neoplastic, neurological Phenotypes Abnormality of abdomen morphology ; Agenesis of corpus callosum ; Astrocytoma ; Autosomal recessive inheritance ; Axillary [mousephenotype.org]

• Onset in Adolescence

  At a glance A polyposis genetic disorder with an onset in adolescence presenting with gastrointestinal multiple colorectal adenomas and primary central nervous system (CNS) tumors (eg, supratentorial glioblastoma and cerebellar medulloblastoma). [accessanesthesiology.mhmedical.com]

Workup of a patient suspected with TS consists of a thorough patient and family history, a clinical examination, and a battery of tests. A family history of the condition provides the initial clue to diagnosis. Sigmoidoscopy and colonoscopy form the mainstay for confirming the diagnosis followed by histological evaluation of the biopsy specimen. Computed tomography (CT) and magnetic resonance imaging (MRI) studies are necessary to detect brain tumors [10]. Histology of the tumors found in TS has features similar as in the same tumors found in patients without TS [9] [11] [12].

If a parent is known to suffer from TS, then it is recommended that his/her children are screened at regular intervals with a sigmoidoscopy until the age of 40 years to exclude colorectal polyps and an arising of malignancy [13]. Genetic testing is also recommended and if mutations are present it should be followed by genetic counseling.

• Multiple Colonic Polyps

  It is characterized by multiple colonic polyps and an increased risk of colon cancer and primary brain cancers. On this page: Article: Epidemiology Pathology History and etymology References Turcot syndrome is a rare disease. [radiopaedia.org]

  She was found to have multiple colonic polyps with adenocarcinomatous changes. Computed tomography brain scan and computed tomography-guided biopsy revealed a left frontoparietal glioblastoma multiforme. [ncbi.nlm.nih.gov]

  Skip to content Also known as: Association of Multiple Polyps of the Colon and a Primary Tumour of the Central Nervous System Background Turcot syndrome is a rare genetic condition. [contact.org.uk]

  Turcot syndrome Oncology A syndrome characterized by multiple colon polyps and brain tumors–eg, ependymoma, glioblastoma, medulloblastoma Turcot, Jacques, Canadian surgeon, 1914–. [medical-dictionary.thefreedictionary.com]

• Polyps

  Group II: Comprises patients with small polyps numbering fewer than 10, whereas Group III: Comprises patients with innumerable small polyps, usually more than 100. [accessanesthesiology.mhmedical.com]

  Skip to content Also known as: Association of Multiple Polyps of the Colon and a Primary Tumour of the Central Nervous System Background Turcot syndrome is a rare genetic condition. [contact.org.uk]

  Turcot syndrome: A genetic disease characterized by polyps in the colon (large intestine) in addition to tumors in the brain. The polyps in the colon tend to become malignant. The brain tumors are also malignant. Skin abnormalities can also occur. [rxlist.com]

  Moreover, 45% of the total polyps and all polyps with a diameter exceeding 2 cm showed malignant transformation, indicating the precancerous nature of these polyps. [ncbi.nlm.nih.gov]

  Some researchers have separated Turcot syndrome into two forms. type 1 is characterized by the presence of fewer than 100 colonic polyps. These polyps are large in size and more likely to become malignant (cancerous). [rarediseases.org]

Management and Treatment How is Turcot syndrome treated? Turcot syndrome treatment varies based on symptoms. You may need to have your polyps removed (polypectomy.) [my.clevelandclinic.org]

Screening and treatment guidelines have been developed mostly by Level V evidence. [ncbi.nlm.nih.gov]

Standard Therapies Treatment The treatment of Turcot syndrome is directed toward the specific symptoms that are apparent in each individual. [rarediseases.org]

Conclusions: CAP-B maintenance treatment after six cycles CAPOX-B is effective in first-line treatment of mCRC across all mutational subgroups. [cancerindex.org]

The treatment of brain tumor is specific, like site, size and type of brain tumor. [syndromespedia.com]

Much of the information about the prognosis of TS has been gained from analyses of reported cases. [ncbi.nlm.nih.gov]

The occurrence of synchronous tumors has been associated with a poor prognosis. Patients present in their teens with nonspecific symptoms and signs. [symptoma.com]

What is the Prognosis of Turcot Syndrome? (Outcomes/Resolutions) The prognosis of Turcot Syndrome depends on the severity of the symptoms, the overall health status of the affected individual, and his/her response to treatment. [dovemed.com]

In mismatch repair-deficient (dMMR) tumours, BRAF mutations are associated with a good prognosis, whereas in MMR-competent tumours, they are detrimental. [cancerindex.org]

Possible etiology and neurosurgical, clinically important characteristics of this rare syndrome, such as the young age of the patient and the relatively long survival time, will be discussed. [ncbi.nlm.nih.gov]

With further research into the etiology of this condition, scientists determined that the disease was not an independent and clearly-defined entity. Instead, it represented a subset of other syndromes putting patients at risk for different cancers. [wisegeek.com]

(Etiology) Turcot Syndrome is caused by mutation(s) in the APC, MLH1, or PMS2 genes. Based on the gene mutation causing the condition and the mode of inheritance, the disorder is classified into Type 1 and Type 2 types. [dovemed.com]

However, genetic testing thus far did not detect any definitive etiology. [ispub.com]

On this page: Article: Epidemiology Pathology History and etymology References Turcot syndrome is a rare disease. Patients typically present in the second decade 3. [radiopaedia.org]

Colorectal cancer epidemiology: incidence, mortality, survival, and risk factors. Clin Colon Rectal Surg. 2009 Nov;22(4):191-7. [PMC free article: PMC2796096] [PubMed: 21037809] 4. Paraf F, Jothy S, Van Meir EG. [ncbi.nlm.nih.gov]

The New England journal of medicine. 1995 Mar 30 [PubMed PMID: 7661930] [3] Haggar FA,Boushey RP, Colorectal cancer epidemiology: incidence, mortality, survival, and risk factors. [statpearls.com]

Epidemiology The incidence of familial polyposis of the colon is about 1 in 10,000 live births [ 1 ]. Colonic polyps begin developing at a mean age of 15 years [ 1 ]. [patient.info]

To determine whether familial adenomatous polyposis predisposes patients to brain tumors, patients and their first-degree relatives enrolled in the Hopkins registry were compared with the general U.S. population, as represented in the surveillance, Epidemiology [nejm.org]

Pathophysiology The relative risk of cerebellar medulloblastoma in patients with familial adenomatous polyposis is 92 times that of the general population. [accessanesthesiology.mhmedical.com]

Approximately 75% to 80% of individuals with APC-associated polyposis conditions have an affected parent.[3] Pathophysiology Turcot syndrome can arise from mutations in the MMR genes (type I, associated with HNPCC) or the APC genes (type II, associated [ncbi.nlm.nih.gov]

Meyer Children's University Hospital, Florence, Italy Laura Giunti, Ugo Ricci, Sabrina Giglio, Elena Andreucci & Maurizio Genuardi Department of Pediatrics, University of Florence, Florence, Italy Valentina Cetica & Iacopo Sardi Department of Clinical Pathophysiology [nature.com]

The purpose of this article is to describe the pathophysiology, genetic testing, surveillance, surgical interventions, and psychosocial issues. The genetic defect in FAP is germline mutation in the adenomatous polyposis coli (APC) gene. [cancer-genetics.org]

The goal of screening in TS, whether genetic or clinical, would be to prevent complications of the disease. [ncbi.nlm.nih.gov]

This procedure can prevent growths from forming. You may also need surgery to remove a brain or spinal cord tumor. [my.clevelandclinic.org]

At the present time, there are no methods or guidelines available for the prevention of Turcot Syndrome, since it is a highly uncommon genetic disorder. [dovemed.com]

Using mismatch repair corrects damage done to DNA to prevent a tumor from growing. Sometimes a mutation (change in DNA sequence) causes the parts of the mismatch repair system not to work, which means that it cannot fix other mutations. [thinkgenetic.com]

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2. Tops CMJ, Vasen HFA, van Berge Henegouwen G, et al. Genetic evidence that Turcot syndrome is not allelic to familial adenomatous polyposis. American Journal of Medical Genetics. 1992;43(5):888–893.
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