Malignant ependymomas in a patient with Turcot's syndrome: case report and management guidelines. 1998

K J Mullins, and A Rubio, and S P Myers, and D N Korones, and W H Pilcher
Division of Neurological Surgery, Strong Memorial Hospital, University of Rochester School of Medicine, New York 14642-8670, USA.

BACKGROUND Turcot's Syndrome is the association of multiple adenomatous polyps of the colon with a primary tumor of the central nervous system. We present the first reported case of Turcot's Syndrome in a patient with malignant ependymomas. Recent advances in the elucidation of the genetic basis for the hereditary forms of colon cancer have provided a clearer understanding of the etiology of Turcot's Syndrome. This new information is relevant to the neurosurgical community and provides updated guidelines in the diagnosis and management of patients with this complex disease process. RESULTS Turcot's Syndrome is related to two distinct genetic errors. The first involves a germ-line mutation in the adenomatous polyposis coli (APC) gene, which is postulated to act as a tumor suppressor gene. The second is a germ-line defect in one of a group of genes responsible for DNA nucleotide mismatch repair. CONCLUSIONS The elucidation of the gene defects responsible for the hereditary forms of colon cancer has provided a clearer understanding of the molecular basis of Turcot's Syndrome. Patients with hereditary forms of colon cancer and neurologic symptoms require immediate and thorough investigation because of their significantly increased risk of developing CNS tumors. Previously healthy patients diagnosed with a CNS tumor with a family history of adenomatous polyposis coli should undergo screening and surveillance colonoscopy as the CNS lesion may precede colonic symptoms. CNS screening guidelines for asymptomatic patients with adenomatous polyposis coli requires further risk analysis studies. All patients diagnosed with Turcot's Syndrome should be tested for the gene defect, including the CNS tumor tissue to provide further data on the genetic relationship between Turcot's Syndrome and the hereditary forms of colon cancer.

UI MeSH Term Description Entries
D011125 Adenomatous Polyposis Coli A polyposis syndrome due to an autosomal dominant mutation of the APC genes (GENES, APC) on CHROMOSOME 5. The syndrome is characterized by the development of hundreds of ADENOMATOUS POLYPS in the COLON and RECTUM of affected individuals by early adulthood. Polyposis Coli, Familial,Polyposis Syndrome, Familial,Adenomatous Polyposis Coli, Familial,Adenomatous Polyposis of the Colon,Familial Adenomatous Polyposis,Familial Adenomatous Polyposis Coli,Familial Adenomatous Polyposis of the Colon,Familial Intestinal Polyposis,Familial Multiple Polyposi,Familial Multiple Polyposis,Familial Multiple Polyposis Syndrome,Familial Polyposis Coli,Familial Polyposis Syndrome,Familial Polyposis of the Colon,Hereditary Polyposis Coli,Myh-Associated Polyposis,Polyposis Coli,Polyposis, Adenomatous Intestinal,Adenomatous Intestinal Polyposes,Adenomatous Intestinal Polyposis,Adenomatous Polyposes, Familial,Adenomatous Polyposis Colus,Adenomatous Polyposis, Familial,Coli, Adenomatous Polyposis,Coli, Familial Polyposis,Coli, Hereditary Polyposis,Coli, Polyposis,Colus, Adenomatous Polyposis,Colus, Familial Polyposis,Colus, Hereditary Polyposis,Colus, Polyposis,Familial Adenomatous Polyposes,Familial Intestinal Polyposes,Familial Multiple Polyposes,Familial Multiple Polyposus,Familial Polyposis Colus,Familial Polyposis Syndromes,Hereditary Polyposis Colus,Intestinal Polyposes, Familial,Intestinal Polyposis, Adenomatous,Intestinal Polyposis, Familial,Multiple Polyposes, Familial,Multiple Polyposi, Familial,Multiple Polyposis, Familial,Multiple Polyposus, Familial,Myh Associated Polyposis,Myh-Associated Polyposes,Polyposes, Familial Adenomatous,Polyposes, Familial Multiple,Polyposes, Myh-Associated,Polyposi, Familial Multiple,Polyposis Coli, Adenomatous,Polyposis Coli, Hereditary,Polyposis Colus,Polyposis Colus, Adenomatous,Polyposis Colus, Familial,Polyposis Colus, Hereditary,Polyposis, Familial Adenomatous,Polyposis, Familial Multiple,Polyposis, Myh-Associated,Polyposus, Familial Multiple
D001932 Brain Neoplasms Neoplasms of the intracranial components of the central nervous system, including the cerebral hemispheres, basal ganglia, hypothalamus, thalamus, brain stem, and cerebellum. Brain neoplasms are subdivided into primary (originating from brain tissue) and secondary (i.e., metastatic) forms. Primary neoplasms are subdivided into benign and malignant forms. In general, brain tumors may also be classified by age of onset, histologic type, or presenting location in the brain. Brain Cancer,Brain Metastases,Brain Tumors,Cancer of Brain,Malignant Primary Brain Tumors,Neoplasms, Intracranial,Benign Neoplasms, Brain,Brain Neoplasm, Primary,Brain Neoplasms, Benign,Brain Neoplasms, Malignant,Brain Neoplasms, Malignant, Primary,Brain Neoplasms, Primary Malignant,Brain Tumor, Primary,Brain Tumor, Recurrent,Cancer of the Brain,Intracranial Neoplasms,Malignant Neoplasms, Brain,Malignant Primary Brain Neoplasms,Neoplasms, Brain,Neoplasms, Brain, Benign,Neoplasms, Brain, Malignant,Neoplasms, Brain, Primary,Primary Brain Neoplasms,Primary Malignant Brain Neoplasms,Primary Malignant Brain Tumors,Benign Brain Neoplasm,Benign Brain Neoplasms,Benign Neoplasm, Brain,Brain Benign Neoplasm,Brain Benign Neoplasms,Brain Cancers,Brain Malignant Neoplasm,Brain Malignant Neoplasms,Brain Metastase,Brain Neoplasm,Brain Neoplasm, Benign,Brain Neoplasm, Malignant,Brain Neoplasms, Primary,Brain Tumor,Brain Tumors, Recurrent,Cancer, Brain,Intracranial Neoplasm,Malignant Brain Neoplasm,Malignant Brain Neoplasms,Malignant Neoplasm, Brain,Neoplasm, Brain,Neoplasm, Intracranial,Primary Brain Neoplasm,Primary Brain Tumor,Primary Brain Tumors,Recurrent Brain Tumor,Recurrent Brain Tumors,Tumor, Brain
D004806 Ependymoma Glioma derived from EPENDYMOGLIAL CELLS that tend to present as malignant intracranial tumors in children and as benign intraspinal neoplasms in adults. It may arise from any level of the ventricular system or central canal of the spinal cord. Intracranial ependymomas most frequently originate in the FOURTH VENTRICLE and histologically are densely cellular tumors which may contain ependymal tubules and perivascular pseudorosettes. Spinal ependymomas are usually benign papillary or myxopapillary tumors. (From DeVita et al., Principles and Practice of Oncology, 5th ed, p2018; Escourolle et al., Manual of Basic Neuropathology, 2nd ed, pp28-9) Ependymoma, Myxopapillary,Ependymoma, Papillary,Anaplastic Ependymoma,Cellular Ependymoma,Clear Cell Ependymoma,Papillary Ependymoma,Anaplastic Ependymomas,Ependymoma, Anaplastic,Ependymomas,Ependymomas, Anaplastic,Ependymomas, Myxopapillary,Ependymomas, Papillary,Myxopapillary Ependymoma,Myxopapillary Ependymomas,Papillary Ependymomas
D005260 Female Females
D005909 Glioblastoma A malignant form of astrocytoma histologically characterized by pleomorphism of cells, nuclear atypia, microhemorrhage, and necrosis. They may arise in any region of the central nervous system, with a predilection for the cerebral hemispheres, basal ganglia, and commissural pathways. Clinical presentation most frequently occurs in the fifth or sixth decade of life with focal neurologic signs or seizures. Astrocytoma, Grade IV,Giant Cell Glioblastoma,Glioblastoma Multiforme,Astrocytomas, Grade IV,Giant Cell Glioblastomas,Glioblastoma, Giant Cell,Glioblastomas,Glioblastomas, Giant Cell,Grade IV Astrocytoma,Grade IV Astrocytomas
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000293 Adolescent A person 13 to 18 years of age. Adolescence,Youth,Adolescents,Adolescents, Female,Adolescents, Male,Teenagers,Teens,Adolescent, Female,Adolescent, Male,Female Adolescent,Female Adolescents,Male Adolescent,Male Adolescents,Teen,Teenager,Youths
D018095 Germ-Line Mutation Any detectable and heritable alteration in the lineage of germ cells. Mutations in these cells (i.e., "generative" cells ancestral to the gametes) are transmitted to progeny while those in somatic cells are not. Mutation, Germ-Line,Germline Mutation,Germ Line Mutation,Germ-Line Mutations,Germline Mutations,Mutation, Germ Line,Mutation, Germline,Mutations, Germ-Line,Mutations, Germline

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