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本研究通过检测IKZF1基因在成人急性淋巴细胞白血病(ALL)患者骨髓细胞中的表达亚型,探讨IK6功能缺陷亚型患者的临床特征及预后。应用巢式RT-PCR方法检测79例初诊ALL患者IKZF1基因表达亚型,统计IK6亚型阳性患者比例,分析IK6阳性患者年龄、性别、白细胞计数、融合基因、危险分层特点,比较IK6阳性组与IK6阴性组患者总生存率、无病生存率的差异。结果表明:在ALL患者中检测到IKZF1基因表达的功能亚型为IK1、IK2/3,功能缺陷亚型主要为IK4、IK6、IK8、IK9;表达IK6亚型患者占B-ALL患者的34.4%,占T-ALL患者的22.2%;B-ALL中IK6阳性组患者BCR/ABL1阳性率及高危组患者比例均高于IK6阴性组(P=0.027,P=0.048),而两组的年龄、性别、白细胞计数无显著性差异,T-ALL中IK6阳性组与IK6阴性组的年龄、性别、白细胞计数、危险分层均无显著性差异,在Ph染色体阴性的B-ALL患者中,IK6阳性组的总生存率和无病生存率均低于IK6阴性组(P=0.009,P=0.002)。结论:在成人ALL中IKZF1基因IK6表达亚型为主要功能缺陷亚型,IK6亚型的表达可作为Ph染色体阴性的B-ALL患者预后危险因素,指导成人ALL治疗。
In this study, IKZF1 gene was detected in bone marrow cells of adult patients with acute lymphoblastic leukemia (ALL) in order to explore the clinical features and prognosis of patients with IK6 dysfunction subtype. The expression of IKZF1 gene in 79 newly diagnosed ALL patients was detected by nested RT-PCR. The proportion of IK6-positive patients was statistically analyzed. The age, sex, leukocyte count, fusion gene and risk stratification of IK6-positive patients were analyzed. And IK6 negative patients the overall survival rate, disease-free survival difference. The results showed that the functional subtypes of IKZF1 gene expression were ALL, IK1 and IK2 / 3, IK4, IK6, IK8 and IK9 in ALL patients, 34.4% of patients with IK6 subtype, , Accounting for 22.2% of T-ALL patients. The positive rate of BCR / ABL1 in BK ALL patients and the high risk group were higher than those in IK6 negative patients (P = 0.027, P = 0.048) There were no significant differences in sex and white blood cell count between the two groups. There was no significant difference in age, sex, white blood cell count and risk stratification between IK6 positive group and IK6 negative group in T-ALL. In Ph chromosome negative B-ALL patients, IK6 positive The overall survival and disease-free survival were lower in the IK6-negative group (P = 0.009, P = 0.002). Conclusion: The expression of IK6 IK6 subtype is the main function deficient subtype in adult ALL. The expression of IK6 subtype may serve as a prognostic risk factor for Ph chromosome negative B-ALL patients and guide adult ALL treatment.