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1、医学检验与临床2008年第19卷第5期MedicalLaboratoryScienceandClinics,2008,Vol19,No.5·39·急性白血病FLT3基因突变的检测及临床意义贾红英刘红(山东省淄博市中心医院,淄博255036)【摘要】为探讨FLT3基因及FLT3内部串联重复(internaltandemduplicationITD)突变与急性白血病的关系及临床意义,采用PCR结合DNA测序技术分析32例急性髓系白血病(AML),18例急性淋巴细胞白血病(ALL)患者骨髓单个核细胞中FLT3基因及FLT3/
2、ITD突变,分析FLT3/ITD阳性患者的临床特征及疗效。结果表明:32例AML患者中5例FLT3/ITD(15.6%)阳性,其中7例M3中1例、10例M4中1例、10例M5中3例。而18例ALL患者中未检测到FLT3/ITD突变。对其中2例特征性突变测序结果显示,ITD位于外显子14,长度为27～63bp,为单纯串联重复,FLT3/ITD序列包括2个SH2-结合结构域(YEYV与YEY2DLK),其中一例出现氨基酸的替换,其ITD序列及氨基酸的替换均具有独特性,均未改变FLT3阅读框架。临床研究表明FLT3/ITD阳
3、性AML患者外周血白细胞数高(P<0.01),骨髓原始细胞比例高(P<0.01),化疗后有低缓解率趋势。结论:FLT3/ITD突变多见于M5患者,为框内突变。FLT3/ITD阳性的AML患者外周血白细胞数高,骨髓原始细胞比例高,伴低缓解率趋势。FLT3/ITD基因突变可作为预测AML预后的一个指标。【关键词】基因;FLT3;内部串联重复;白血病;急性DetectionofFLT3GeneMutationinacuteleukemiaandIt’sClinicalSignificanceJiaHongying,LiuHo
4、ng(TheDe2partmentofLaboratory,ZiBoCentralHospital,ZiBo,255036,China)【Abstract】TostudytheFLT3geneexpreslonanditsintemaltandeduplicationinacuteleukemiaanditsclinicalsignificance,polymerasechainreaction(PCR)andDNAsequencmgwereusedtodetecttheFLT3/ITDmutationinblastc
5、ellofbonemarrowfrom50patientswithacuteleukemia,including32acutemyeoloidleukemia(AML)cases,18acutelympoidleukemia(ALL)cases,TheresultesshowedthattheexpressionofFLT3/ITDgeneweredetectedin5of32(15.6%)AMLpatients,including1/7ofM3,1/10ofM4and3/10ofM5.MoreFLT3aberra2t
6、ionswerefoundinAML-M5.NoFLT3/ITDwasfoundin18ALL.Sequenceanalysisof2casewithabnormalPCRelectrophoreticpatternsre2vealedthattheITDswaslocatedwithinexon14,from27to63bp,theITDwasasimpletandemduplication,anditdidnotalteredthereadingframe.FLT3/ITDwasassociatedwithahig
7、herperipheralwhitecellcount(P<0.01)andahigherpercentageofbonemarrowblastcells(P<0.01)andalowarcompletemissionratetendency.ItisconcludedthatmoreFLT3/ITDmutationoccursinAML-M5patients.Sequenceofthemutantswasinframemutation.FLT3/ITDmutationwasassociatedwithahigherp
8、eripheralwhitecellcountandahigherpercentageofbonemarrowblastcellsandalowercompleteremissionratetendency.【Keywords】Gene;FLT3;Internaltandemduplication;Leukemia;AcuteFL
