Prognostic implications of the genetic abnormalities in adult patients with acute lymphoblastic leukemia

本研究的目的是建立一个基于急性淋巴细胞白血病（ALL）成年患者遗传异常的预后评分系统。近年来，在小儿ALL的综合基因分析中发现了IKZF1、CREBBP等新的遗传异常。在这项研究中，与儿童ALL相比，IKZF1基因的改变在成人ALL中经常被检测到（53%）。虽然未发现UTX、SUZ12、RPD3或EZH2等表观遗传修饰因子突变，但在成人ALL中检测到EED和CREBBP突变。IKZF1、EED、CREBBP或TP53基因无突变、1个突变和2个或更多突变患者的5年无复发生存率分别为47%、22%和0%，表明这些基因突变导致成人费城染色体阴性ALL的临床预后较差。

The aim in this study is to establish a prognostic scoring system based on the genetic abnormalities in adult patients with acute lymphoblastic leukemia (ALL). Recently, comprehensive gene analysis in pediatric ALL brought new genetic abnormalities such as IKZF1 and CREBBP. In this study, alterations in the IKZF1 gene were frequently detected in adult ALL (53%) compared to that of pediatric ALL. Although no mutation in the epigenetic modifiers such as UTX, SUZ12, RPD3 or EZH2 was found, mutations in the EED and CREBBP were detected in adult ALL. 5-year relapse-free survival in patients without mutation, with one mutation and with two or more mutations in the IKZF1, EED, CREBBP or TP53 genes was 47%, 22% and 0%, respectively, indicating that these gene mutations confer a poor clinical outcome in adult Philadelphia chromosome-negative ALL.