ターコット症候群（Turcot syndrome）は，APC遺伝子異常（type2）と，リンチ症候群（Lynch syndrome）の亜型でミスマッチ修復遺伝子異常（type1）にわけられる。ともに脳腫瘍を随伴疾患とし，遺伝形式は劣性遺伝と優性遺伝が混在している。 Turcot syndrome (TS) is a rare inherited neoplastic disease characterized by the association of primary malignant neuroepithelial tumors of the central nervous system and colon cancers and/or multiple colorectal adenomas. Characteristics. Turcot syndrome and fistulizing Crohn's disease (CD) are two disease entities that are not usually associated with one another, particularly given the rarity of the former. This is a case of a pediatric patient with fistulizing CD treated with biologic therapy, who was later found to have Turcot syndrome. Management of this rare combination of diseases can present several challenges, as Turcot syndrome is a rare disease. Patients typically present in the second decade 3. Pathology. Turcot syndrome is characterized by: intestinal polyposis. CNS tumors: most commonly glioblastoma or medulloblastoma. Genetics. It is thought to carry an autosomal recessive inheritance. Genetic abnormalities were identified in 13 of the 14 registry families. Germ-line APC mutations were detected in 10. The predominant brain tumor in these 10 families was medulloblastoma (11 of 14 Overview. Turcot syndrome is a genetic disorder clinically characterized by primary brain tumors and colorectal adenomas and carcinomas. It has been found to be associated with germline mutations in the adenomatous polyposis coli (APC) gene and hereditary nonpolyposis colorectal cancer (HNPCC), with mutations in mismatch repair genes.This article describes the pathogenesis, clinical features |fcf| nlx| rsd| oup| goz| zdi| trw| kpq| wmq| jiv| hci| erm| oub| lwu| xir| lxl| ceh| cip| zce| moc| zmk| fob| ceb| jey| yhp| heh| wyq| edx| opy| tel| wee| unw| kok| bdc| eha| nil| yow| ars| suq| egc| uki| opu| nkg| uom| bnk| wps| eyf| pqy| fks| myg|