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

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

  Risk Analysis for Brain Tumors in Familial Adenomatous Polyposis. [nejm.org]

  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]

• 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]

  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]

  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]

  Other included symptoms are related to GI tract syndromes, including Diarrhea, Bleeding from rectum (the terminal portion of the large intestine) Exhaustion and tiredness Abdominal spasm Unexplained weight loss Apart from GI tract related syndrome, individuals [syndromespedia.com]

• 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]

  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]

  […] 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]

  J AAPOS. 2014; 18(2):186-8 [ PubMed ] Related Publications 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. [cancer-genetics.org]

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

• Gagging

  A missense mutation (GAG to AAG) at codon 705 of hPMS2 gene was detected in one allele of this patient, which was inherited from his mother without tumors. [ncbi.nlm.nih.gov]

• 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]

• Flexion Contracture

  contracture- inability to fully straighten joing (7.5%) Gait (walking) disturbance (7.5%) Hallucinations (7.5%) Hemiplegia/hemiparesis- weakness of one side of the body (7.5%) Intestinal polyposis (7.5%) Memory impairment (7.5%) Neoplasm of the liver [thinkgenetic.com]

• Cafe-Au-Lait Spots

  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]

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

  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]

  […] corpus callosum 0001274 Percent of people who have these symptoms is not available through HPO Abnormality of abdomen morphology 0001438 Astrocytoma 0009592 Autosomal recessive inheritance 0000007 Axillary freckling 0000997 Basal cell carcinoma 0002671 Cafe-au-lait [rarediseases.info.nih.gov]

  The occurrence of colorectal cancer occurs later in TS2 than in TS1, and the skin lesions look more like epidermal cysts[10] rather than cafe au lait spots if present at all. [statpearls.com]

• 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]

  However, eight café au lait macules (0.8-1 cm in size) with irregular borders and a few small ( 5 mm) axillary freckles were noted on examination. There were no neurofibromas and no Lisch nodules were seen on ophthalmic examination. [clincancerres.aacrjournals.org]

• Loss of Attention

  Abdominal pain (90%) Constipation (90%) Gastrointestinal hemorrhage (bleeding) (90%) Glioma- type of brain tumor (90%) Malabsorption- inability to absorb nutrients (90%) Neoplasm (benign or cancerous growth) of the colon (90%) Weight loss (90%) Attention [thinkgenetic.com]

• Hyperactivity

  […] pain (90%) Constipation (90%) Gastrointestinal hemorrhage (bleeding) (90%) Glioma- type of brain tumor (90%) Malabsorption- inability to absorb nutrients (90%) Neoplasm (benign or cancerous growth) of the colon (90%) Weight loss (90%) Attention deficit hyperactivity [thinkgenetic.com]

• Hyperreflexia

  […] stretch (50%) Increased intracranial pressure- pressure inside of the skull (50%) Migraine (50%) Muscular hypotonia-low muscle tone (50%) Nausea and vomiting (50%) Neoplasm of the rectum (50%) Seizures (50%) Abnormal pyramidal signs- plantar extension and hyperreflexia [thinkgenetic.com]

• Onset in Adolescence

  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

  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]

  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]

  It is characterized by multiple colonic polyps and an increased risk of colon and primary brain cancers. Epidemiology Turcot syndrome is a rare disease. Patients typically present in the second decade 3. [radiopaedia.org]

  Turcot syndrome is diagnosed based on the symptoms in a person with known multiple colonic polyps who develops a primary brain tumour with a relevant family history. [contact.org.uk]

  In the large intestine, multiple colonic polyps develop; in the CNS, brain tumors. Under the name constitutional mismatch repair-deficiency, (CMMR-D), it has been mapped to MLH1, MSH2, MSH6 or PMS2. [en.wikipedia.org]

• Polyps

  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]

  It is characterized by central nervous system tumors like glioblastoma and medulloblastoma with colorectal polyps and adenocarcinoma of the colon. [symptoma.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.
3. Mori T, Nagase H, Horii A, et al. Germ-line and somatic mutations of the APC gene in patients with Turcot syndrome and analysis of APC mutations in brain tumors. Genes Chromosomes and Cancer. 1994;9(3):168–172.
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