Investigation of TEL/AML1 and BCR/ABL genes fusion in Acute lymphoblastic leukemia (ALL) Patients and Follow-up Study in 25 Bone Marrow Transplanted (BMT) Patients Using Interphase Fluorescence In Situ Hybridization (FISH).

[摘要] Introduction::BCR/ABLfusionsinhematopoeiticcellsareknowntoinduceresistancetoapoptosisandcellchangesinresponsetocell-cellandcell-matrixinteractions,ontheotherhand,patientswithTEL/AML1genefusionsresponddifferentlytotreatment,dependingontherapeuticprotocols.Aims::Weconductedaprospectivecohortstudytoinvestigatehowthesetranslocationsaffectaperson’squalityoflife,andtoevaluatetheirresponsestobonemarrowtransplantationtherapy.MethodsandMaterials::TEL,AML1,ABLandBCRprobeswereappliedtocellsduringinterphase,usingcytogenetictechniquesandFISHanalysistoobtainthekaryotypeof100patients,whichincludedgenesinvolvedinfusion,signaldistributions,age,sex,positivefamilialbackground,andresponsestotherapies.AfterBMTwasperformedin25patients,alloftheabovedatawascollectedonceagainandtheresultswerecompared.Results::Inourstudy,46%ofchildpatientsdemonstratedanabnormalFISHpattern(23%withfusedABL/AML1,3%withdeletion,7%withagaininTELgene,and3%and10%withdeletionandagaininAML1genes,respectively.Inadults,27%hadanabnormalFISHpattern,while3%hadfusedTEL/AML1genesandotherabnormalities,aswasevidentinchildren.Againingenecopyoccuredtwiceasoftenasalossingenecopy,exceptforchildALLpatientswitht(12;21),wherein58%ofcases,lostTELgenechildrenwitht(12;21)hadlongersurvivalperiods,whileadultswitht(9;22)hadshorterones.PostBMTrevealedthat65%ofBMcellskaryotypednormal,comparedto24%pre-BMT.WBCcountincreasedpositivelywiththeonsetofALL,althoughanincreaseinWBCcountdecreasedsurvivaltime.ArelationshipbetweenpositivefamilialbackgroundandALLwasalsoseen.Conclusion::FISHisthebettermethodfordiagnosinggeneticdisordersinALLpatientscomparedtoothermethods.

[学科分类] 基础医学

[关键词] ALL;BMT;FISH