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1、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】本研究旨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有或不伴有染色体异常的AML患者FLT3基因突变情况。结果表明：125例患者中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%、M155.56%、M238.71%、M350.0%、M450.0%、M530.77%、M6/M710.0%和M718.75%。染色体异常的类型以t(16,2
2、1)最多，为9例，占19.78%；其次分别为t(8,21)7例，占15.22%；t(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%。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%，两者无显著性差异(p﹥0.05)。在两组患者中FLT3/ITD基因突变阳性率分别为11.39%和24.09%，两者有显著性差异（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、骨髓中白细
3、胞比例均无显著性差异(p﹥0.05)；伴有或不伴有染色体异常FLT3/ITD阳性组绝大多数短期内死亡，两组间死亡率无显著性差异(p﹥0.05)，但伴有染色体异常FLT3/ITD阳性组患者的生存期更短，两者有显著性差异（p<0.05）。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异常AML患者预后不良的重要标志。【关键词】急性髓性白血病ClinicalSignificanceofFLT3InternalTandemDuplicationinAcuteMyeloidLeukemiawithChromosom
4、eAbnormalityAbstractThisstudywastoexploretheclinicalsignificanceofFLT3internaltandemduplication(FLT3/ITD)inacutemyeloidleukemia(AML)withchromosomeabnormality.Karyotypesin125AMLpatientswereanalyzedbyRbandingtechnique.UsinggenomicPCRandsequencing,FLT3/ITDmutationinAMLpatientswithorwi
5、thoutchromosomeabnormitywereexamined.Theresultsindicatedthatchromosomeabnormalitywithvarioustypeswasfoundin46outof125samples,thepositiveratewas36.8%.ThepositiverateindifferentchromosomesubtypesincludedM057.14%,M155.56%,M238.71%,M350.0%,M450.0%,M530.77%,M6/M710.0%andM718.75%respecti
6、vely.Invariouschromosomeabnormalitytypes,t(16,21)occurredin9sampleswithhighestrate19.78%,andtheothersweret(8,21)in7samples,t(4,11)in6sampleswiththeoccurrencerate15.22%,13.04%respectively.Besides,t(6,9)was7detectedin3sampleswhichwasseldomfounddomestically,thepositiveratewas6.52%.In7
7、9sampleswithoutchromosomeabnormality,FLT3geneexpressionwasdetectedin56samples,thepositiveratewas70.89%.In46sampleswithchromosometranslocation,FLT3geneexpressioncouldbedetectedin31samples,thepositiveratewas67.39%.Thedifferencebetweenthemwasnosignificant(p﹥0.05).AndtheFLT3/ITDmutatio
8、nratesinthesetwogroupswere
