IKZF1 (IKAROS) deletions as a marker of minimal residual disease for patients with acute leukemia

Cellular Therapy and Transplantation

Boris V. Afanasyev¹  Ildar M. Barkhatov¹  Ludmila S. Zubarovskaya¹  Anna V. Akimova¹  Maria V. Zagrivnaja¹ 

关键词: IKZF1 deletions;    IKAROS;    minimal residual disease;    acute lymphoblastic leukemia;   

DOI  :  10.3205/ctt-2011-No12-abstract82

学科分类：肿瘤学

来源: Universitaetsklinikum Hamburg - Eppendorf / University Medical Center Hamburg - Eppendorf

【 摘 要 】

Objective:Theaimofourstudywastodevelopmethodsfordeterminingminimalresidualdisease(MRD)forpatientswithacuteleukemia,usingdeletionsingeneIKZF1(transcriptionfactorIKAROS)asamarker.Methods:ThepresenceofdeletionsΔ2-7andΔ4-7IKZF1wasexaminedin53patientswithacuteleukemia(AML:23,ALL:29,biphenotypicacuteleukemia(BAL):1)atdifferentstagesofdisease.Locus-specificprimersandTaqManprobesforreal-timePCRweredesignedtoquantifydeletionsΔ2-7andΔ4-7IKZF1.Results:ThefrequencyofdeletionsIKZF1inthegeneralpopulationofpatientswithacuteleukemiawas11%(n=6),andinpatientswithALL,17%(n=5).But,atthesametime,deletionsweredetectedfor75%ofpatientswithPh-positiveALL.OnepatientwithBALhadadeletionintheIKZF1gene.WithinthegroupofpatientswithAMLabove-mentionedmutationswerenotdetected.IKZF1mutationswerefoundinthegroupofpatientswithdetectedchromosomalaberrationsaswellasinpatientswithnormalkaryotypetumorcells.TheIKZF1genedeletionwasnotdetectedinpatientsatmolecularremission.Atthesametimethenumberofcellswithdeletionproportionallyincreaseddataonothermarkers:cytogeneticandmolecular(astudyofdonorchimerism,thedefinitionofthechimerictranscripts)atrelapse.Conclusions:DeletionsinthegeneIKZF1canbeusedasamarkerforevaluationofminimalresidualdiseaseinpatientswithALL.

【 授权许可】

Unknown