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1、·294·中国实验血液学杂志JournalofExperimentalHematology2009;17(2):294-297文章编号(ArticleID):1009-2137(2009)02-0294-04·论著·急性髓系白血病NPM1基因突变的研究112111戴丹,张苏江,乔纯,孙雪梅,钱思轩,徐卫,徐燕丽,李建勇1南京医科大学附属南京第一医院血液科,江苏南京210006;南京医科大学第一附属医院2江苏省人民医院血液科,江苏南京210029;南京中医药大学附属医院,江苏省中医院血液科,江苏南京210029摘要本研究旨在探讨急性髓系白
2、血病(AML)患者NPM1基因突变情况及临床特征。采用PCR扩增产物直接测序法检测33例AML患者NPM1基因第12外显子的突变情况,了解NPM1基因突变阳性患者的临床特征。结果显示:33例AML患者中共检出8例(24.2%)具有NPM1基因突变,其中M11例、M23例、M41例、M53例。19例正常核型AML患者中7例(36.8%)发生NPM1基因突变,明显高于异常核型组(14例中1例,7.1%)(p<0.05)。NPM1基因突变型患者骨髓原始细胞比例及外周血白细胞计数均高于野生型组(p值均<0.05)。结论:NPM1基因第12外显子
3、的突变多见于正常核型AML患者,突变患者骨髓原始细胞比例及外周血白细胞数量增多。关键词NPM1基因突变;急性髓系白血病;DNA突变中图分类号R733.71文献标识码AAnalysisofNPM1GeneMutationsinAcuteMyeloidLeukemia11211DAIDan,ZHANGSu2Jiang,QIAOChun,SUNXue2Mei,QIANSi2Xuan,XUWei,XUYan2Li,1LIJiang2Yong1DepartmentofHematology,TheFirstHospital,NanjingMedic
4、alUniversity,Nanjing210006,JiangsuProvince,China;DepartmentofHematology,TheFirstHospital,NanjingMedicalUniversity,JiangsuProvincialPeopleHospital,Nanjing210029,JiangsuProvince,2China;DepartmentofHematology,AffiliatedHospital,NanjingUniversityofTraditionalChineseMedicine,
5、JiangsuProvincialHospitalofTraditionalChineseMedicine,Nanjing210029,JiangsuProvince,ChinaCorrespondingAuthor:ZHANGSu2Jiang,MD,AssociateSenior2Physycian.Tel:(025)83718836-6034.E2mail:zsj721108@163.comAbstractTheaimofthisstudywastoevaluatethenucleophosmin(NPM1)geneexon12mu
6、tationinpatientswithacutemyelogenousleukemia(AML)anditsclinicalcharacteristics.GenomicDNAsfrom33AMLpatientswereampli2fiedbyPCRandsequencingforNPM1mutations.TheresultsshowedthattheNPM1exon12mutationswerefoundis8patientsfrom33AMLpatients(24.2%)including1ofM1,3ofM2,1ofM4and
7、3ofM5.TheNPM1genemutationswerefoundin7outof19patientswithnormalkaryotypeandtheirincidencewassignificantlyhigherthanthatinpatientswithkaryotypieabnormalities(1/14,7.1%,p<0.005).Theproportionofbonemarrowblastcellsandthecountofpe2ripheralwhiltebloodcellsinpatientswithNPMIex
8、on12mutationwerehigherthanthatinpatientswithwildtypeNPMIgene.ItisconcludedthattheoccurrenceofNPM1exon12
