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本研究探讨AML1-ETO融合基因阳性急性髓系白血病(acute myeloid leukemia,AML)患者c-kit突变的发生情况及其临床意义。采用PCR和直接测序法检测31例AML1-ETO阳性AML患者c-kit基因17外显子突变的发生情况,并分析c-kit基因突变与患者的临床、实验室特征以及疗效的关系。结果表明:31例患者中14例检测到c-kit突变,突变率为45.16%,突变组男性患者的比例为71.43%、初诊时白细胞计数>10×109/L患者的比例为78.57%和伴有髓外浸润患者的比例为21.43%,均明显高于无突变组(29.41%、41.18%、0%,P=0.020,0.036,0.045),两组患者的年龄和骨髓原始细胞比例无明显差异(P=0.437和0.510)。c-kit突变和无突变组化疗完全缓解(CR)率(64.29%∶80%)和复发率(58.33%∶21.43%)的差异无统计学意义(P=0.344和0.054),而死亡率(57.14%)在c-kit突变组明显高于无突变组(20%,P=0.039)。结论:AML1-ETO阳性AML患者c-kit突变常见,突变患者预后差,常规检测c-kit突变对患者的危险度分层、预后评估和选择有效治疗方案有重要意义。
This study was to investigate the occurrence and clinical significance of c-kit mutation in patients with AML1-ETO fusion gene-positive acute myeloid leukemia (AML). The occurrence of c-kit 17 exon mutation in 31 AML1-ETO positive AML patients was detected by PCR and direct sequencing, and the relationship between c-kit gene mutation and clinical, laboratory characteristics and therapeutic effect was analyzed. The results showed that c-kit mutation was detected in 14 of 31 patients. The mutation rate was 45.16%. The proportion of male patients in the mutation group was 71.43%. The proportion of patients with newly diagnosed leukocyte count> 10 × 109 / L was 78.57% The proportion of patients with myelosuppression was 21.43%, which were significantly higher than those without mutation (29.41%, 41.18%, 0%, P = 0.020,0.036,0.045). There was no significant difference between the two groups in the age and proportion of bone marrow blast cells (P = 0.437 and 0.510). No significant difference was found between the rates of complete remission (CR) and recurrence (58.33%, 21.43%) in c-kit mutation and non-mutation group (P = 0.344 and 0.054) 57.14%) were significantly higher in c-kit mutation group than in non-mutation group (20%, P = 0.039). Conclusion: The mutation of c-kit is common in patients with AML1-ETO positive AML. The prognosis of patients with mutation is poor. It is important to routinely detect c-kit mutations in patients with risk stratification, prognosis and selection of effective treatment options.