简介:Seventy-eightcasesofretinoblastoma(Rb)diagnosedattheEyeENTHospital,ShanghaiMedicalUniversityfrom1953to1985werestudied.Theresultsofmultiplelogisticregressionanalysisandconditionalprobabilitymodelshowedthathighfetalorderhadamoderaterisk(OR=1.28,P<0.05)ofdevelopingunilateralRb.Bothunilateralandbilateralcaseswereindependentofparentalages,andnointeractioncouldbefoundbetweenfetalorderandpaternalofmaternalage;also,theeffectoffetalorderwasnotconfoundedbyparentalages.
简介:Cancergenomicsisarapidlygrowingdisciplineinwhichthegeneticmolecularbasisofmalignancyisstudiedatthescaleofwholegenomes.Whilethedisciplinehasbeensuccessfulwithrespecttoidentifyingspecificoncogenesandtumorsuppressorsinvolvedinoncogenesis,itisalsochallengingourapproachtomanagingpatientssufferingfromthisdeadlydisease.Specificallycancergenomicsisdrivingclinicaloncologytotakeamoremolecularapproachtodiagnosis,prognostication,andtreatmentselection.Wereviewhererecentworkundertakenincancergenomicswithanemphasisontranslationofgenomicfindings.Finally,wediscussscientificchallengesandresearchopportunitiesemergingfromfindingsderivedthroughanalysisoftumorswithhigh-depthsequencing.
简介:Three-dimensional(3D)printing(3DP)isarapidprototypingtechnologythathasgainedincreasingrecognitioninmanydifferentfields.Inherentaccuracyandlow-costpropertyenableapplicabilityof3DPinmanyareas,suchasmanufacturing,aerospace,medical,andindustrialdesign.Recently,3DPhasgainedconsiderableattentioninthemedicalfield.Theimagedatacanbequicklyturnedintophysicalobjectsbyusing3DPtechnology.Theseobjectsarebeingusedacrossavarietyofsurgicalspecialties.Theshortageofcadaverspecimensisamajorprobleminmedicaleducation.However,thisconcernhasbeensolvedwiththeemergenceof3DPmodel.Custom-madeitemscanbeproducedbyusing3DPtechnology.Thisinnovationallows3DPuseinpreoperativeplanningandsurgicaltraining.Learningisdifficultamongmedicalstudentsbecauseofthecomplexanatomicalstructuresoftheliver.Thus,3Dvisualizationisausefultoolinanatomyteachingandhepaticsurgicaltraining.However,conventionalmodelsdonotcapturehapticqualities.3DPcanproducehighlyaccurateandcomplexphysicalmodels.Manytypesofhumanoranimaldifferentiatedcellscanbeprintedsuccessfullywiththedevelopmentof3Dbio-printingtechnology.Thisprogressrepresentsavaluablebreakthroughthatexhibitsmanypotentialuses,suchasresearchondrugmetabolismorliverdiseasemechanism.Thistechnologycanalsobeusedtosolveshortageoforgansfortransplantinthefuture.
简介:Precisionmedicineaimstoidentifytherightdrug,fortherightpatient,attherightdose,attherighttime,whichisparticularlyimportantincancertherapy.Problemssuchasthevariabilityoftreatmentresponseandresistancetomedicationhavebeenlongstandingchallengesinoncology,especiallyfordevelopmentofnewmedications.Solidtumors,unlikehematologicmalignanciesorbraintumors,areremarkablydiverseintheircellularoriginsanddevelopmentaltiming.Theabilityofnext-generationsequencing(NGS)toanalyzethecomprehensivelandscapeofgeneticalterationsbringspromisestodiseasesthathaveahighlycomplexandheterogeneousgeneticcompositionsuchascancer.HereweprovideanoverviewofhowNGSisabletofacilitateprecisionmedicineandchangetheparadigmofcancertherapy,especiallyforsolidtumors,throughtechnicaladvancements,moleculardiagnosis,responsemonitoringandclinicaltrials.
简介:Acutemyeloidleukemia(AML)isageneticallyheterogeneousmyeloidmalignancythatoccursmorecommonlyinadults,andhasanincreasingincidence,mostlikelyduetoincreasingage.PrecisediagnosticclassificationofAMLrequiresclinicalandpathologicinformation,thelatterincludingmorphologic,immunophenotypic,cytogeneticandmoleculargeneticanalysis.RiskstratificationinAMLrequirescytogeneticsevaluationasthemostimportantpredictor,withgeneticmutationsprovidingadditionalnecessaryinformation.AMLwithnormalcytogeneticscomprisesabout40%-50%ofallAML,andhasbeenintensivelyinvestigated.Thecurrentlyused2008WorldHealthOrganizationclassificationofhematopoieticneoplasmshasbeenproposedtobeupdatedin2016,alsotoincludeanupdateontheclassificationofAML,duetothecontinuouslyincreasingapplicationofgenomictechniquesthathaveledtomajoradvancesinourknowledgeofthepathogenesisofAML.ThepurposeofthisreviewistodescribesomeoftheserecentmajoradvancesinthediagnosticclassificationandriskstratificationofAML.
简介:Next-generationsequencing(NGS)technologyiscapableofsequencingmillionsorbillionsofDNAmoleculessimultaneously.Therefore,itrepresentsapromisingtoolfortheanalysisofmoleculartargetsfortheinitialdiagnosisofdisease,monitoringofdiseaseprogression,andidentifyingthemechanismofdrugresistance.OnbehalfoftheTumorBiomarkerCommitteeoftheChineseSocietyofClinicalOncology(CSCO)andtheChinaActionableGenomeConsortium(CAGC),thepresentexpertgroupherebyproposesadvisoryguidelinesonclinicalapplicationsofNGStechnologyfortheanalysisofcancerdrivergenesforprecisioncancertherapy.Thisgroupcomprisesanassemblyoflaboratorycancergeneticists,clinicaloncologists,bioinformaticians,pathologists,andotherprofessionals.Aftermultipleroundsofdiscussionsandrevisions,theexpertgrouphasreachedapreliminaryconsensusontheneedofNGSinclinicaldiagnosis,itsregulation,andcompliancestandardsinclinicalsamplecollection.Moreover,ithaspreparedNGScriteria,thesequencingstandardoperationprocedure(SOP),dataanalysis,report,andNGSplatformcertificationandvalidation.