摘要
分析急性髓系白血病(AML)初诊患者flt3长度突变(flt3-LM)发生率及其与染色体核型及FAB亚型之间的关系,以及flt3-LM与疗效之间的关系。采用聚合酶链反应(PCR)扩增基因组DNA,应用2%琼脂糖凝胶与8%变性聚丙烯酰氨凝胶电泳(PAGE)分析结果,检测99例初诊AML患者flt3基因长度突变;应用G显带方法对其中72例初诊AML患者进行细胞遗传学分析。结果表明:应用琼脂糖凝胶检测AML患者flt3-LM发生率为20.2%(20/99),而应用变性PAGE检测初诊AML患者flt3-LM发生率为29.29%(29/99);flt3-LM在各亚型患者中发生率分别为M0(0/1)、M2(30%,9/30)、M3(22.2%,6/27)、M4(28.6%,4/14)、M5(36.8%,7/19)、M6(37.5%,3/8)。flt3-LM在正常核型组为39.13%(9/23),高于异常核型组(24.49%,12/49),但无统计学差异。73例可评价疗效患者中flt3-LM阳性完全缓解(CR)率36.36%(8/22),低于flt3-LM阴性患者CR率62.75%(32/51)(p<0.05)。flt3-LM在完全缓解患者中占20%(8/40)、部分缓解(PR)患者中占38.1%(8/21)、未缓解(NR)患者中占50%(6/12)。结论:变性聚丙烯酰氨凝胶电泳检测flt3-LM比较敏感、可靠;flt3-LM在AML中发生率较高,但对AML的CR率有不利影响。
The aim of this study was to analyze the frequency of flt3 length mutation （flt3-LM） in de novo acute myeloid leukemia patients and the relationship between flt3-LM and chromosome alterations, FAB subgroups, as well as efficiency of therapy. Genomic DNA was amplified by PCR; 2% agarose gel or 8% denaturing PAGE were used to detect the length mutation of flt3 gene in 99 de novo acute myeloid leukemia patients;karyotyping in 72 AML patients was performed by G banding technique. The results showed that the flt3-LM was detected in 20.2% （20/99） patients by agarose gel electrophoresis, and in 29.9% （29/99） by denaturing PAGE. The flt3-LM was not detected in M0 （only one patient was available）, but flt3-LM occurence in AML subtypes was as follow： in M2（9/30）, M3（6/27）, M4（4/14）, M5（7/19）, M6（3/8） respectively. flt3-LM in patients with normal karyotypes（39.13%） was more prevalent as compared with patients of abnormal karyotype （24.49%）, but there was no statistical difference （p0.05）. The complete remission （CR） rate in flt3-LM positive patients （36.36%） was lower than that in flt3-LM negative patients（62.75%） in the 73 patients（p0.05） whose karyotypic detection was performed. The distributions of flt3-LM were observed in 8 out of 40 CR patients, 8 out of 21 PR patients, and 6 out of 12 NR patients. It is concluded that the denaturing PAGE is more sensitive and reliable to detect the flt3-LM. The flt3 mutation represents a common genetic abnormality in AML patients, and the flt3-LM is associated with lower CR rate.
出处
《中国实验血液学杂志》
CAS
CSCD
2010年第6期1386-1389,共4页
Journal of Experimental Hematology
