目的 探讨GATA-2基因在AML1/ETO融合基因阳性急性髓系白血病M2（acute myeloid leukemia with maturation，AML/M2）患者中的表达状况。方法 利用实时荧光定量PCR（RQ-PCR）法对23例AML1/ETO阳性AML-M2患者初诊骨髓标本中GATA-2基因的表达情况进行定量检测，并分析不同表达水平患者实验室检查及临床预后的差异。结果 患者GATA-2基因表达水平（GATA-2基因拷贝数/内参基因拷贝数）初诊时为2.17%~1 260.65%。将GATA-2基因表达水平≥82％者归为高表达组（10例），表达水平＜82％者归为低表达组（13例）。高表达组与低表达组患者年龄、性别、初始白细胞计数、骨髓原始细胞比例以及化疗完全缓解（CR）率的差异均无统计学意义（P>0.05），但复发率（71.43％ vs. 15.38％）及死亡率（70.00％ vs. 7.69％）的差异有统计学意义（P均＜0.05），高表达组的无病生存（DFS）率及总生存（OS）率亦低于低表达组（P<0.01）。在高表达组中，选择移植（2/10）者均无复发存活，选择单纯化疗（8/10）的患者7例死亡。结论 AML1/ETO阳性AML-M2患者合并GATA-2基因高表达提示患者易复发且预后不良，此类患者应尽早采取常规化疗以外的其他有效治疗措施。
英文摘要:
Objective To determine the expression level of GATA-2 gene in acute myeloid leukemia with maturation (AML-M2) patients carrying AML1/ETO fusion gene. Methods Bone marrow samples were collected from 23 patients with de novo adult AML-M2 carrying AML1/ETO fusion gene. GATA-2 gene expression was detected by real-time quantitative polymerase chain reaction (RQ-PCR). We analyzed the correlation between GATA-2 gene expression and laboratorial features and clinical prognosis of patients. Results GATA-2 expression levels (GATA-2 gene copies/ reference gene copies) in the patients were found to be 2.17%-1 260.65%. A GATA-2 expression over or equal to 82% was defined as HIGH (10 cases), while an expression level below 82% was defined as LOW (13 cases). No significant differences were found in age, sex, white blood cell count or the rate of bone marrow blasts between HIGH and LOW expression groups (P＞0.05). Although the difference in complete remission rate between the two groups was not statistical significant (P=0.067 8), the HIGH expression group had higher relapse rate (71.43％ vs. 15.38％, P=0.022 3) and higher mortality rate (70.00％ vs. 7.69％, P<0.05). The DFS and OS of the HIGH group are statistically significantly lower than that of the LOW group （P<0.01）. In the HIGH group, the patients choosing HSCT （2/10） are all alive without relapse, while among those choosing chemotherapy only （8/10）, seven out of eight patients died. Conclusion High expression level of GATA-2 in AML-M2 patients with AML1/ETO is associated with high risk of relapse and poor prognosis. Therefore, AML-M2 patients with AML1/ETO fusion gene and high expression of GATA-2 would possibly benefit from additional treatments except for chemotherapy.
