Hamartomatous Polyposis Syndromes (HPS) are rare genetic syndromes characterized by the development of hamartomatous polyps in the ...SkiptomaincontentAdvertisementSearchallBMCarticlesSearchDownloadPDFReviewOpenAccessPublished:15July2014Hamartomatouspolyposissyndromes:AreviewAnneMarieJelsig1,NielsQvist2,KlausBrusgaard3,ClausBuhlNielsen4,TinePlatoHansen5&LilianBommeOusager3 OrphanetJournalofRareDiseasesvolume 9,Article number: 101(2014)Citethisarticle19kAccesses47Citations7AltmetricMetricsdetailsAbstractHamartomatousPolyposisSyndromes(HPS)aregeneticsyndromes,whichincludePeutz-Jegherssyndrome,Juvenilepolyposissyndrome,PTENhamartomatumoursyndrome(CowdenSyndrom,Bannayan-Riley-RuvalcabaandProteusSyndrome)aswellashereditarymixedpolyposissyndrome.OthersyndromessuchasGorlinSyndromeandmultipleendocrineneoplasiasyndrome2BaresometimesreferredtoasHPS.HPSischaracterizedbythedevelopmentofhamartomatouspolypsinthegastrointestinaltractaswellasseveralextra-intestinalfindingssuchasdermatologicalanddysmorphicfeaturesorextra-intestinalcancer.Thesyndromesarerareandinheritedinanautosomaldominantmanner.ThediagnosisofHPShastraditionallybeenbasedonclinicalcriteria,butcansometimesbedifficultastheseverityofsymptomsrangeconsiderablyfromonlyafewsymptomstoveryseverecases-evenwithinthesamefamily.Denovocasesarealsofrequent.However,becauseofthediscoveryofseveralassociatedgermline-mutationsaswellastherapiddevelopmentingeneticsitisnowpossibletousegenetictestingmoreofteninthediagnosticprocess.Managementofthesyndromesisdifferentforeachsyndromeasextra-intestinalsymptomsandtypesofcancersdiffers.ClinicalawarenessandearlydiagnosisofHPSisimportant,asaffectedpatientsandat-riskfamilymembersshouldbeofferedgeneticcounsellingandsurveillance.SurveillanceinchildrenwithHPSmightpreventordetectintestinalorextra-intestinalcomplications,whereasinadulthoodsurveillanceisrecommendedduetoanincreasedriskofcancere.g.intestinalcancerorbreastcancer.IntroductionHamartomatousPolyposisSyndromes(HPS)areraregeneticsyndromescharacter