Turcot syndrome is a genetic disorder clinically comprised of an association of primary neuroepithelial tumors of the central nervous system with familial ...LoginForgotPasswordSubscribeSiteLicenseAccessHighlight SearchinArticlesNewsMediaPatientHandoutsAllHomeContentsTurcotsyndromeKKJainMD (Dr.Jainisaconsultantinneurologyandhasnorelevantfinancialrelationshipstodisclose.)RimasVLukasMD, editor. (Dr.LukasofNorthwesternUniversityFeinbergSchoolofMedicinereceivedhonorariumsfromNovocureforspeakingengagements,honorariumsfromNovocureforadvisoryboardmembership,andresearchsupportfromBMS.)OriginallyreleasedSeptember28,1999;lastupdatedJuly27,2019;expiresJuly27,2022IntroductionThisarticleincludesdiscussionofTurcotsyndrome,braintumorpolyposissyndrome,glioma-polyposissyndrome,familialadenomatouspolyposiscoli,andhereditarynonpolyposiscolorectalcancer.Theforegoingtermsmayincludesynonyms,similardisorders,variationsinusage,andabbreviations.OverviewTurcotsyndromeisageneticdisorderclinicallycomprisedofanassociationofprimaryneuroepithelialtumorsofthecentralnervoussystemwithfamilialadenomatouspolyposiscoli(APC)orhereditarynonpolyposiscolorectalcancer.Thisarticledescribesthepathogenesisanddiagnosisofthissyndrome.ThemanagementofpatientswithTurcotsyndrometakesintoconsiderationboththeCNSlesionsandcolorectallesions.Earlydetectionofbraintumorsinpatientswithfamilialadenomatouspolyposiscolimightimproveoutcome.Therefore,surveillanceforbraintumorsisconsideredworthwhileinthesepatients.Keypoints •Turcotsyndromeisanassociationofprimaryneuroepithelialtumorsofthecentralnervoussystemwithfamilialadenomatouspolyposiscoliorhereditarynonpolyposiscolorectalcancer. •Turcotsyndromeisageneticdisorderassociatedwithmutationsof2germlinegenesineachindividual. •Animportantdifferentialdiagnosisismetastaticbraintumorincaseswithcolorectalcarcinoma. •Earlydetectionofbraintumorsinpatientswithfamilialadenomatouspolyposiscolimightimproveoutcome. •Prognosisinadvancedcasesispoor,anddeathisusuallyduetomalignantbraintumor,butsom