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当前位置:首页 > 商业/管理/HR > 经营企划 > 2016年更新版《WHO造血和淋巴肿瘤分类》中胚系易感性髓系肿瘤临时类别的解读
DOI10.13602/j.cnki.jcls.2016.11.16··1975。2016《WHO》121.3210002.3100092016《WHO》。、、4。2016WHOR446AmyeloidneoplasmswithgermlinepredispositionmyelodysplasticsyndromesMDS、-acutemyeloidleukemiaAML1。2。2070。next-generationsequencingNGS3。2016《WHO》“”。WHO。WHO。1“”MDSAML。MDSMDSMDS。bonemarrowfailuredisorderBMFDMDSMDS。。BMFD。。Fan-conianemiaFAShwachman-Diamond。。24-5。WHO。2WHOWHO61CEBPAAMLDDX41DDX412RUNX1ETV6RUNX1、ETV63GATA2。2.12.1.1CEBPAAMLCCAAT/CCAAT/enhancerbindingproteinαCEBPA19q13.1。5%~14%AMLCEBPA20%7%~11%CEPBAAMLCEBPA0.4%~1.5%。CEPBAAML100%CEBPA。24.51.75~46。CEBPAAML。CEBPA2-4。CEPBAAMLCEPBA。CEBPA。。·458·2016113411ChinJClinLabSciNov.2016Vol.34No.11CEBPA2-4。2.1.2DDX41DEAD---41DEAD-boxpolypep-tide41DDX415q35.3RNA。DDX41mRNARNA。DDX4110001.5%DDX41。DDX41。DDX41。44~70、、。7。2.22.2.1RUNX1runt1runt-relatedtranscriptionfactor1RUNX121q22。RUNX1AML2016WHO1。RUNX1RUNX1。RUNX1。。MDSAML35%44%MDS/AML336~76。TacutelymphoblasticleukemiaALLBRUNX1。。2RUNX1。RUNX1。RUNX12ANKRD26、ETV68-9。2.2.2ANKRD26210p1226ankyrinrepeatdomain26ANKRD26。。ANKRD265'。ANKRD26MPL。AML304.9%2.2%MDS。MDSANKRD2628。2.2.3ETV612p13.2ETS6ETSfamilytranscriptionalrepressorvariant6ETV6DNAETV65。、。。10-11。2.32.3.1GATA2GATA2GATA-bindingprotein2GATA23q21DNAG-A-T-A。GATA2MDS/AML。MonoMACEmberger。GATA2。EmbergerMonoMACB、。。GATA2MDS/AMLGATA2。2/3GATA2。MDS70%MDS21~33173824。2.3.2FA、、Shwachman-DiamondDiamond-Blackfan。1。MDSSRP72BMFD12。2.3.3dyskeratosiscongenitalDC/、、、。。DC9telomerasereversetranscriptaseTERTRNAtelomeraseRNAcomponentTERC13。TERTTERCDC/MDS/AML。MDS、、MDS/AMLDC14。DCMDS3519~6115。·558·2016113411ChinJClinLabSciNov.2016Vol.34No.111*FANCAFANCBFANCCBRCA2/ARXLR9%~13%FANCD1FANCD2FANCEAML7%MDSFANCFFANCGXRCC9FANCIBRIP1FANCJBACH1FANCLFANCMPALB2FANCNRAD51CFANCOSLX4FANCPFANCQERCC4CTC1DKC1TERCTERTARAD2%~30%-FISHTINF2NHP2NOP10XLRWRAP53RTEL1ELANEGFI1HAX1G6PC3ADAR21%~40%WASVPS45USB1CSF3RXLRShwachman-SBDSAR5%~24%SBDSDiamondDiamond-RPS19RPS17RPS24RPL35AADXLR5%BlackfanRPL5RPL11RPS7RPS26FRPS10GATA1RPS19ADARXLRX*。3WHO21AML、ALLMDSMDS。2MDS/AML。3<45<45、<50。4。。1。。。RUNX1、ANKRD26ETV6。BMFD。AMLNGS。CEBPA、RUNX1、ETV6GATA2。CEBPA。。4。FISH2。NGS。。。。DNAAML。。。。。。NGS。50%。4。·658·2016113411ChinJClinLabSciNov.2016Vol.34No.11。。。。51ArberDAOraziAHasserjianRetal.The2016revisiontotheWorldHealthOrganizationclassificationofmyeloidneoplasmsanda-cuteleukemiaJ.Blood2016127202391-2405.2CzuchlewskiDRPetersonLC.Myeloidneoplasmswithgermlinepre-dispositionAnewprovisionalentitywithintheWorldHealthOrgani-zationClassificationJ.SurgPatholClin201691165-176.3ChurpekJEGodleyLA.HowIdiagnoseandmanageindividualsatriskforinheritedmyeloidmalignanciesJ.Blood2016128141800-1813.4BabushokDVBesslerM.Geneticpredispositionsyndromeswhenshouldtheybeconsideredinthework-upofMDSJ.BestPractResClinHaematol201528155-68.5BabushokDVBesslerMOlsonTS.Geneticpredispositiontomyel-odysplasticsyndromeandacutemyeloidleukemiainchildrenandyoungadultsJ.LeukLymphoma2016573520-536.6JaffeESArberDACampoEetal.HematopathologyM.2nded.ElsevierHealthSciences2017829-830.7PolprasertCSchulzeISekeresMAetal.InheritedandsomaticdefectsinDDX41inmyeloidneoplasmsJ.CancerCell2015275658-670.8BannonSADiNardoCD.Hereditarypredispositionstomyelodys-plasticsyndromeJ.IntJMolSci2016176838.9GodleyLA.InheritedpredispositiontoacutemyeloidleukemiaJ.SeminHematol2014514306-321.10ZhangMYChurpekJEKeelSBetal.GermlineETV6mutationsinfamilialthrombocytopeniaandhematologicmalignancyJ.NatGenet2015472180-185.11NoetzliLLoRWLee-SherickABetal.GermlinemutationsinETV6areassociatedwiththrombocytopeniaredcellmacrocytosisandpredispositiontolymphoblasticleukemiaJ.NatGenet2015475535-538.12KirwanMWalneAJPlagnolVetal.Exomesequencingidenti-fiesautosomal-dominantSRP72mutationsassociatedwithfamilialaplasiaandmyelodysplasiaJ.AmJHumGenet2012905888-892.13.M.201575-97.14ChurpekJELorenzRNedumgottilSetal.Proposalfortheclini-caldetectionandmanagementofpatientsandtheirfamilymemberswithfamilialmyelodysplasticsyndrome/acuteleukemiapredisposi-tionsyndromesJ.LeukLymphoma201354128-35.15AlterBPGiriNSavageSAetal.Cancerindyskeratosiscongeni-taJ.Blood.2009113266549-6557.2016-09-15·758·2016113411ChinJClinLabSciNov.2016Vol.34No.11
本文标题:2016年更新版《WHO造血和淋巴肿瘤分类》中胚系易感性髓系肿瘤临时类别的解读
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