Objective: To analyze the prognostic impact of Ikaros family zinc finger 1(IKZF1) mutation on adult Philadelphia chromosome (Ph1) positive acute lymphoblastic leukemia (ALL) patients. Methods: IKZF1 mutation was detected in 63 adult Ph1 positive ALL patients at diagnosis using capillary electrophoresis. Recruited patients were treated in our center and other three hospitals in Ningbo from January 2014 to January 2017. Clinical data were collected and retrospectively analyzed. Results: Thirty-nine (61.9%) patients were positive IKZF1 mutation in this cohort. The white blood cell (WBC) count in IKZF1 mutation group was significantly higher than that of mutation negative group [(64.6±11.3)×10(9)/L vs. (33.7±5.6)×10(9)/L, P<0.05]. Patients with WBC count over 30×10(9)/L accounted for 56.4% in IKZF1 mutation group. Complete remission (CR) rate in the IKZF1 mutation group was also lower than that of negative group after induction chemotherapy (64.1% vs. 75.0%, P>0.05). IKZF1 was a negative prognostic factor but not independent factor for survival by univariate and multivariate analyses. Patients were divided into chemotherapy and allogeneic transplantation groups. The 3-year overall survival (OS) rate and 3-year leukemia-free survival (LFS) rate in IKZF1 mutation group were significantly lower than those of negative group in both transplantation group (42.3% vs. 59.3%; 31.2% vs. 50.0%; respectively, both P<0.05) and chemotherapy group (24.8% vs. 40.0%; 19.0% vs. 34.3%; respectively, both P<0.05). Conclusion: IKZF1 mutation is a poor prognostic factor for adult Ph1 positive ALL patients.
目的： 观察Ikaros家族锌指蛋白1（IKZF1）基因突变对成人费城染色体（Ph）阳性急性淋巴细胞白血病（ALL）预后的影响。 方法： 2014年1月—2017年1月在宁波市4家医院接受治疗的成人Ph(+) ALL患者共63例，收集患者临床资料及初诊时骨髓或外周血标本，采用毛细管电泳法检测IKZF1突变情况，分析IKZF1突变情况与预后的关系。 结果： 63例成人Ph(+) ALL中合并IKZF1突变者39例，占61.9%。IKZF1突变组初诊时白细胞计数明显高于IKZF1无突变组[（64.6±11.3）×10(9)/L比（33.7±5.6）×10(9)/L，P<0.05]，突变组白细胞计数≥30×10(9)/L者的比例高达56.4%。IKZF1突变组首次诱导化疗4周内的完全缓解率为64.1%，低于IKZF1无突变组（75.0%），但差异无统计学意义（P>0.05）。单因素和多因素分析结果提示，IKZF1突变是影响Ph(+) ALL预后的因素，但不是独立影响因素。根据是否接受过异基因造血干细胞移植将全部患者分为化疗组和移植组。化疗组中IKZF1突变者的3年总生存（OS）率和无白血病生存（LFS）率明显低于IKZF1无突变者（24.8%比40.0%；19.0%比34.3%；P值均<0.05）。移植组中IKZF1突变者的3年OS率和LFS率也明显低于IKZF1无突变者（42.3%比59.3%；31.2%比50.0%；P值均<0.05）。 结论： IKZF1突变是成人Ph(+) ALL的一个不良预后因素。.
Keywords: Acute lymphoblastic leukemia; Ikaros family zinc finger 1 gene; Philadelphia chromosome; Prognosis.