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1、临床医学论文•伴有染色体异常白血病患者FLT3基因突变检测的临床意义【摘要】本研究行在探讨伴有染色体异常急性髓系白血病患者FLT3跨膜区内部串联重复突变检测的临床意义。用R显带染色体核型技术分析125例AML患者的细胞核型；采用PCR联合序列测定检测伴冇或不伴冇染色体异常的AML患者FLT3基因突变情况。结果表明：125例患者屮46例证实存在不同类型染色体异常，总检出率为36.8%,各亚型检出率分别为M057.14%、Ml55.56%、M238.71%、M350.0%、M450.0%.M530.77%、M6/M710.0%ffM718.75%。染色体异常的类型以t(16,21)最
2、多,为9例，占19.78%；其次分别为t(8,21)7例，占15.22%；1(4,11)6例，占13.04%。同时发现了3例国内较少见的t(6,9)染色体异常，占6.52%0无染色体异常79例患者中56例FLT3基因表达阳性,阳性率为70.89%。46例伴有染色体异常患者中31例FLT3基因表达阳性,阳性率为67.39%,两者无显着性弟异(p>0.05)o在两组患者中FLT3/TTD基因突变阳性率分别为11.39%和24.09%,两者有显着性差异(p<0.05)。临床资料显示，伴有和不伴有染色体异常的两组患者外周血白细胞计数、Hb计数、骨髓中H细胞比例均无显着性差异(p>0.05
3、)；伴冇或不伴冇染色体异常FLT3/ITD阳性组绝大多数短期内死亡，两组间死亡率无显着性差异(p>0・05),但伴有染色体异常FLT3/ITD阳性组患者的生存期更短，两者有显着性茅异(pv0.05)。结论：同时伴有染色体异常和FLT3/ITD突变患者预后较差，FLT3/ITD突变可以作为染色体界常AML患者预后不良的重要标志。【关键词】急性髓性口血病ClinicalSignificanceofFLT3InternalTandemDuplicationinAcuteMye1oidLeukemiawithChromosomeAbnormalityAbstractThisstudywa
4、stoexploretheclinicalsignificanceofFLT3internaltandemduplication(FLT3/ITD)inacutemyeloidleukemia(AML)withchromosomeabnormalily.Karyotypesin125AMLpatientswereanalyzedbyRbandingtechnique.UsinggenomicPCRandsequencing,FLT3/ITDmutationinAMLpatientswithorwithoutchromosomeabnormitywereexamined.There
5、sultsindicatedthatchromosomeabnormalitywithvarioustypeswasfoundin46outof125samples,thepositiveratewas36.8%・ThepositiverateindifferentchromosomesubtypesincludedMO57.14%,Ml55.56%,M238.71%,M350.0%,M450.0%,M530.77%,M6/M710.0%andM718.75%respectively.Invariouschromosomeabnormalitytypes,t(16,21)occu
6、rredin9sampleswithhighestrate19.78%,andtheothersweret(8,21)in7samples,t(4,11)in6sampleswiththeoccurrencerate15.22%,13.04%respectively.Besides,1(6,9)wasdetectedin3sampleswhichwasseldomfounddomestically,thepositiveratewas6.52%・In79sampleswithoutchromosomeabnormality,FLT3geneexpressionwasdetecte
7、din56samples,thepositiveratewas70.89%・In46sampleswithchromosometranslocation,FLT3geneexpressioncouldbedetectedin31samples,thepositiveratewas67.39%・Thedifferencebetweenthemwasnosignificant(p>0.05).AndtheFLT3/ITDmutationratesinthesetwogroupswer
