Objective: To investigate the gene mutation in adult patients with B-ALL and its influence on clinical prognosis.
Methods: 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.
Results: 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).
Conclusion: 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.
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| http://dx.doi.org/10.19746/j.cnki.issn.1009-2137.2020.06.013 | DOI Listing |
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