IKZF1基因IK6亚型在成人急性淋巴细胞白血病中的表达及临床意义

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。

Expression and Clinical Significance of IKZF1 Gene IK6 Isoform in Adult Acute Lymphoblastic Leukemia

This study was aimed to detect the expression of IKZF1 gene isoforms in bone marrow cells of patients with adult acute lymphoblastic leukemia and to investigate the clinical characteristics and prognosis of patients with 1K6 isoform. The expression of IKZFI gene isoforms were measured by nested RT-PCR in 79 newly diagnosed ALL patients. The clinical characteristics of 1K6 positive patients and overall survival , disease-free survival of the IK6 positive group and IK6 negative group were compared. The results showed that IK1 and IK2/3 were the functional isoform while the 1K4 ,IK6 ,IK8 and IK9 were the dominant negative isoform in adult ALL. The dominant negative isoform IK6 accounted for 34.4% in B-ALL patients and accounted for 22.2% in T-ALL patients. The BCR/ABL1 positive rate and the per- cemage of high risk patients in IK6 positive group was higer than that of IK6 negtive group in B-ALL patients （ P = 0. 027, P -- 0. 048 ）. The expression of IK6 isoform did not correlate with sex, age and WBC count of B-ALL and T- ALL patients. The overall survival and disease-free survival of IK6 positive group were both lower than that of IK6 neg- five group in Ph negative B-ALL patients （ P = 0. 009, P = 0. 002 ）. It is concluded that IK6 is a main isoform of the ex- pression of IKZF1 gene in adult ALL patients, and can be used as a prognostic factor for guiding treatment in Ph negative B-ALL patients.