Deng Mei, Zuo Wen-Li, Zhang Chun-Lei, Wei Xu-Dong, Li Xiao-Yu
Department of Hematology, Tumor Hospital of Henan Province,Affiliated Tumor Hospital of Zhengzhou University, Zhengzhou 450000, Henan Province, China.
Department of Hematology, Central Hospital of Zhengzhou, Zhengzhou 450000, Henan Province, China E-mail:
Zhongguo Shi Yan Xue Ye Xue Za Zhi. 2020 Dec;28(6):1867-1872. doi: 10.19746/j.cnki.issn.1009-2137.2020.06.013.
To investigate the gene mutation in adult patients with B-ALL and its influence on clinical prognosis.
Clinical data of 226 adult patients with B-ALL were retrospectively analyzed in the period from August 2011 to February 2018. The incidence of gene mutation in all patients were detected, and the influence of mutation gene on clinical prognosis were estimated. Cox regression model were used to evaluate the independent prognostic factors.
208 (92.04%) of 226 patients showed gene mutations, and the median mutation number was 2 (0-8). Among them, 54 cases (23.89%) showed 14 or more mutations. The top five mutation types of all patients were SF1, FAT1, MPL, PTPNII and N-RAS respectively. The median OS and median RFS times of 226 patients were 27.0 (5.5-84.0) months and 22.5 (0-81.0) months respectively. The OS and RFS times of Ph B-ALL patients with JAK1 and JAK2 mutations were significantly shorter than those of patients without JAK2 mutations (P＜0.05). The OS and RFS times of Ph B-ALL patients with abnormal JAK-STAT signaling pathway were significantly shorter than those of patients without abnormal JAK-STAT signaling pathway (P＜0.05). The OS and RFS times of Ph B-ALL patients with epigenetic related signaling pathway mutations were significantly shorter than those of patients without epigenetic related signaling pathway mutations (P＜0.05). Cox regression model multivariate analysis showed that WBC level was the independent influencing factor for total survival time and relapse-free survival time in adult B-ALL patients (P＜0.05). With or without JAK2 mutation and WBC level were the independent influencing factor for overall survival time and relapse-free survival time of adult Ph B-ALL patients (P＜0.05).
Gene mutations are common in all adult B-ALL patients, and the clinical prognosis of patients with JAK and epigenetics-related signaling pathway mutations is worsen, while the WBC level closely relates to the clinical prognosis of the patients.
探讨成人B淋巴细胞白血病（B-ALL）患者的基因突变情况及其对临床预后的影响。
回顾性分析2011年8月至2018年2月期间226例成人B-ALL患者的临床资料。检测所有患者的基因突变发生率，并评估突变基因对临床预后的影响。采用Cox回归模型评估独立预后因素。
226例患者中208例（92.04%）存在基因突变，中位突变数为2（0-8）个。其中，54例（23.89%）显示14个或更多突变。所有患者前五位的突变类型分别为SF1、FAT1、MPL、PTPNII和N-RAS。226例患者的中位总生存期（OS）和中位无复发生存期（RFS）分别为27.0（5.5-84.0）个月和22.5（0-81.0）个月。伴有JAK1和JAK2突变的Ph B-ALL患者的OS和RFS时间显著短于无JAK2突变的患者（P＜0.05）。伴有JAK-STAT信号通路异常的Ph B-ALL患者的OS和RFS时间显著短于无JAK-STAT信号通路异常的患者（P＜0.05）。伴有表观遗传相关信号通路突变的Ph B-ALL患者的OS和RFS时间显著短于无表观遗传相关信号通路突变的患者（P＜0.05）。Cox回归模型多因素分析显示，白细胞水平是成人B-ALL患者总生存时间和无复发生存时间的独立影响因素（P＜0.05）。是否伴有JAK2突变及白细胞水平是成人Ph B-ALL患者总生存时间和无复发生存时间的独立影响因素（P＜0.05）。
基因突变在所有成人B-ALL患者中普遍存在，伴有JAK和表观遗传相关信号通路突变的患者临床预后较差，而白细胞水平与患者的临床预后密切相关。
