急性髓系白血病67种基因突变检查及临床意义

doi:10.3969/j.issn.1006-6233.2022.03.026

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Abstract Objective: To explore the occurrence and clinical significance of 67 gene mutations in patients with acute myeloid leukemia (AML). Methods: Totally 117 patients with AML admitted to the hospital between May 2018 and May 2019 were selected. All patients received clinical drug intervention. Mutant genes were screened by second-generation sequencing technology, and the relationship of gene mutations with clinical characteristics and prognosis of patients were analyzed. Results: Of the 117 patients, 108 (92.31%) had gene mutations, including 25 (21.37%) patients with single-gene mutation, 36 (30.77%) patients with 2 gene mutations, and 47 (40.17%) with ≥3 gene mutations. A total of 67 genetic mutations were detected. Among the 108 patients, the mutant genes with a mutation detection rate of ≥10% were as follows: NRAS (23.15%), NPM1 (19.44%), DNMT3A (15.74%), TET2 (14.81%), WT1 (12.03%), CEBPA (12.03%), FLT3-ITD+TKD (11.11%), GATA2 (11.11%), ASXL1 (10.19%), and BCORL1 (10.19%). Common pathways involved included epigenetics (57.41%), transcription regulation (49.07%), cell proliferation or apoptosis (25.00%) and shear factor (8.33%). The hemoglobin (HGB) level in patients with NRAS gene mutation was lower than that in patients without mutation, and white blood cell count (WBC) in patients with NPM1 gene mutation was higher than that in patients without mutation (P<0.05). The detection rates of NPM1 and DNMT3A gene mutations in the intermediate-risk group were higher than those in the low-risk group and the high-risk group (P<0.05). The two-year cumulative survival rates of patients with NPM1 was higher than that of patients without mutation, and the two-year cumulative survival rate of patients with DNMT3A gene mutations were lower than that of patients without mutation (P<0.05). The two-year cumulative survival rate of patients with gene mutations ≥3 was lower than that of patients with gene mutations <3 (P<0.05). The results of multivariate analysis showed that no NPM1 mutation,DNMT3A gene mutations and gene mutations ≥3 were associated with poorer OS of patients with AML (P<0.05). Conclusion: The gene mutation rate is relatively higher in patients with AML. The number and type of gene mutations are related to clinical characteristics and prognosis of patients.

Key words： Acute myeloid leukemia Gene mutation Second-generation sequencing technology

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http://www.hbyxzzs.cn/EN/10.3969/j.issn.1006-6233.2022.03.026 OR http://www.hbyxzzs.cn/EN/Y2022/V28/I3/477

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