Classification of Rhabdomyosarcoma and Its Molecular Basis

Classification of Rhabdomyosarcoma and Its Molecular Basis | Rhabdomyosarcoma pathology outlines

NCBISkiptomaincontentSkiptonavigationResourcesHowToAboutNCBIAccesskeysMyNCBISignintoNCBISignOutJournalListHHSAuthorManuscriptsPMC6637949AdvAnatPathol.Authormanuscript;availableinPMC2019Jul18.Publishedinfinaleditedformas:AdvAnatPathol.2013Nov;20(6):387–397.doi: 10.1097/PAP.0b013e3182a92d0dPMCID:PMC6637949NIHMSID:NIHMS541548PMID:24113309ClassificationofRhabdomyosarcomaandItsMolecularBasisDavidM.Parham,MD*andFredericG.Barr,MD,PhD†DavidM.Parham*DepartmentofPathology,UniversityofOklahomaHealthScienceCenter,OklahomaCity,OKFindarticlesbyDavidM.ParhamFredericG.Barr†LaboratoryofPathology,NationalCancerInstitute,Bethesda,MDFindarticlesbyFredericG.BarrAuthorinformationCopyrightandLicenseinformationDisclaimer*DepartmentofPathology,UniversityofOklahomaHealthScienceCenter,OklahomaCity,OK†LaboratoryofPathology,NationalCancerInstitute,Bethesda,MDReprints:DavidM.Parham,MD,DepartmentofPathology,UniversityofOklahomaHealthScienceCenter,940StantonL.YoungBlvd.,BMSB451,OklahomaCity,OK73104,ude.cshuo@mahrap-divadCopyrightnoticeThepublisher'sfinaleditedversionofthisarticleisavailableatAdvAnatPatholSeeotherarticlesinPMCthatcitethepublishedarticle.Rhabdomyosarcoma,themostcommonsofttissuesarcomaofchildren,hastraditionallybeenclassifiedintoembryonalrhabdomyosarcoma(ERMS)andalveolarrhabdomyosarcoma(ARMS)forpediatriconcologypractice.Thisreviewoutlinesthehistoricaldevelopmentofclassificationofchildhoodrhabdomyosarcomaandthechallengesthathavebeenassociatedwithit,particularlyproblemswiththediagnosisof“solidvariant”ARMSanditsdistinctionfromERMS.Inadditiontodifferencesinclinicalpresentationandoutcome,anumberofgeneticfeaturesunderpinseparationofERMSfromARMS.GeneticdifferencesassociatedwithrhabdomyosarcomasubclassificationincludethepresenceofreciprocaltranslocationsandtheirassociatedfusionsinARMS,amplificationofgenesinARMSanditsfusionsubsets,chromosomallossesandgainsthatmostlyoccurinERMS,andalleliclossesandmutationsusuallyassociatedwithERMS.ChimericproteinsencodedfromthefusionofPAX3orPAX7withFOXO1areexp

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