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目的:对急性髓系白血病(AML)患者CCAAT/增强子结合蛋白α基因(CEBPA)基因突变检测及其价值评价。方法:选择2013年5月至2015年5月惠州市第一人民医院收治的139例AML患者作为研究对象,检测每个患者CEBPA的基因突变量,对其在AML中的临床价值进行评价。结果:139例AML患者中CEBPA基因突变总检出率为43.88%。其中M2的检出率(58.06%)显著高于M3的检出率(5.00%),差异具有统计学意义(P<0.05);其他类型的检出率差异均无统计学意义(P>0.05)。突变型患者的骨髓幼稚细胞数(63.95±19.12)×109/L与野生型(52.01±23.42)×109/L相比明显偏高,外周血血小板数(37.21±29.95)×109/L与野生型(92.57±25.06)×109/L相比明显偏低,差异具有统计学意义(P<0.05)。结论:发生CEBPA基因突变AML的患者骨髓幼稚细胞数比野生型高,外周血血小板数比正野生型低。
Objective: To detect and evaluate the mutation of CCAAT / enhancer binding protein α gene (CEBPA) gene in patients with acute myeloid leukemia (AML). Methods: One hundred and ninety-three patients with AML admitted to Huizhou First People’s Hospital from May 2013 to May 2015 were selected as research objects. The amount of CEBPA gene mutation in each patient was measured and its clinical value in AML was evaluated. Results: The total detection rate of CEBPA mutation in 139 AML patients was 43.88%. Among them, the detection rate of M2 (58.06%) was significantly higher than that of M3 (5.00%), the difference was statistically significant (P <0.05); the detection rates of other types had no statistical significance (P> 0.05 ). Compared with wild type (52.01 ± 23.42) × 109 / L, the number of naive cells in the mutant group was significantly higher (63.95 ± 19.12) × 109 / L and the number of peripheral blood platelets was (37.21 ± 29.95) × 109 / L and wild (92.57 ± 25.06) × 109 / L was significantly lower, the difference was statistically significant (P <0.05). CONCLUSIONS: The number of naive cells in bone marrow of patients with CEBPA-mutated AML is higher than that of wild-type and the number of peripheral blood platelets is lower than that of positive wild-type.