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1、台北市立萬芳醫院Present:住院醫師陳志榮JournalReading 2007-03-02GenomicAberrationsareRareinUrothelialneoplasmsofPatients19YearsorYoungerPJWild,JGiedl,RStoehr,KJunker,SBoehm,JMMvanOers,ECZwarthoff,HBlaszyk,SWFine,PAHumphrey,LPDehner,MBAmin,JIEpsteinandAHartmannJPathol200
2、6IntroductionBladdercancer:Olderpeople(sixthdecadeoflife)<20yearold:distinctunusualPrognosticvalue:notconsensus,butfavorableoutcomemostly.Thedefinitionof“young”:rangingfrom<20yearsto40–45yearsThefrequentlychangingclassificationofurothelialneoplasmsIntrod
3、uctionThe2004WHOclassification23patients:≦20yearsUrothelialneoplasmsoflowmalignantpotential(PUNLMP)orlow-gradenon-invasivepapillarytumorsFavorableclinicaloutcomeIntroductionThe2004WHOClassificationPapillomaPapillaryneoplasmoflowmalignantpotential(PUNLMP)
4、Low-gradepapillarycarcinomaHigh-gradepapillarycarcinomaPatientsandMethod14patients:≦20yearswithurothelialneoplasmsJohnsHopkinsHospital,Barnes-JewishHospital,Washington-UniversityMedicalCenter.Paraffinwax-embeddedtumortissue.2004WHOcriteria:Urothelialpapi
5、lloma(n=1)PUNLMP(n=7)pTalow-grade(n=5)pTahigh-grade(n=1)PatientsandMethodFGFR3andTP53mutationscreening.Comparativegenomichybridization(CGH).Multicolourfluorescenceinsituhybridization.Humanpapillomavirus(HPV)DNA.Microsatelliteanalysis:detectionofmicrosate
6、lliteinstability(MSI).Markersforlossofheterozygosity(LOH)locatedonchromosomearms9p,9q,and17p.Immunohistochemistry:TP53,Ki-67,CK20,hMSH2,hMLH1andhMSH6(mismatchrepairproteins).LaserMicrodissectionandDNAIsolation:5μmtissuesectionPurepopulations:>90%neoplast
7、icbladdertumorcellsExtractednormalandtumorDNALOHAnalysisWholegenomeamplification:Improvedprimerextensionpre-amplificationPCRwithlimitedtumor/normalcellsLOHanalysis:9p21(D9S304,D9S1751)9q(D9S303,D9S747)17p13.1(p53Alu)MSIAnalysisMSIdetection:2mononucleotid
8、erepeats(BAT25,BAT26)3dinucleotiderepeats(D5S346,D2S123,D17S250)BAT40PCRMSI:DefinedbythepresenceofnewbandsafterPCRamplificationoftumorDNA,whichwerenotpresentinPCRproductsofthecorrespondingnormalDNA.TP53MutationAnalysisDire
