目的 探讨FLT3及C-kit基因突变在急性髓细胞白血病(AML)中的临床意义。方法 回顾性分析南方医院2010年1月—2013年12月期间初诊AML患者的临床资料,PCR分析FLT3及C-kit基因突变情况。结果 248例初诊AML患者中, FLT3-ITD突变率为16.9%,TKD突变率为3.2%,C-kit8号外显子突变率为1%,17号外显子突变率为5.2%;FLT3-ITD突变更倾向发生于正常染色体核型的AML患者;FLT3突变阳性组及C-kit突变阳性组患者的外周血白细胞数高于基因突变阴性组,染色体核型正常患者的无病生存时间较阴性组缩短(P<0.05)。但是对血红蛋白、血小板及完全缓解率(CR率)并无影响(P>0.05)。结论 FLT3及C-kit突变的AML患者有较差的临床预后。

Objective This study was to investigate the prognostic value of FLT3 and C-kit gene mutations in patients with acute myeloid leukemia (AML). Methods We retrospect and analyzed the data of the 248patients with newly diagnosed AML from January 2013 to December 2010. FLT3 and C-kit gene mutations was detected by Polymerase chain reaction (PCR). Results Among these 248 subjects, the FLT3-ITD mutation rate was 16.9%, FLT3-TKD was 3.2%, C-kit 8 exon mutation rate was 1% and 17exon mutationwas 5.2%. FLT3-ITD mutation likely occurred in AML patients with normal karyotype. The patients with FLT3-ITD mutation or C-kit mutation had significantly higher PWBC and shorter DFS than patients without gene mutations (P< 0.05), but there was no significantly differences in sex, age, Hb, PLT and CR rate of the first course induction chemotherapy among groups (P>0.05). Conclusion Among patients with AML,FLT3-ITD and C-kit mutations were associated with worse prognosis.