Objective: To investigate the characteristics of gene mutation in elderly patients with acute myeloid leukemia (AML) and its effect on prognosis.
Methods: The clinical and laboratorial characteristics of 54 AML patients (≥60 years old) in Department of Hematology, Tangdu Hospital were analyzed retrospectively during April 2016 to October 2019. Thirty-four AML/myelodysplastic syndrome/myeloproliferative neoplasm related mutant genes were detected by second-generation sequencing technology, and their clinical characteristics, treatment effect, and influence on prognosis were analyzed.
Results: All the patients received DAC+CAG induction treatment, after 1-2 couses of treatment, 36 cases (66.7%) achieved complete response, with a total effective rate of 75.9%, and the median survival time was 17 months. The most frequent mutant genes were TET2 (33.3%), CEBPA (31.5%), DNMT3A (18.5%), ASXL1 (16.7%), NRAS (14.8%), RUNX1 (14.8%), FLT3-ITD (12.9%), TP53 (12.9%), NPM1 (12.9%), and IDH2 (12.9%). Among 7 patients with TP53 mutation, 6 cases obtained complete response after 1-2 courses of induction treatment, but there was no statistically significant difference in the effect on prognosis. Patients with FLT3-ITD and NRAS mutations had shorter overall survival time compared with who had no mutation (P=0.47, P=0.48). Multivariate analysis showed that FLT3-ITD and NRAS mutations were poor prognostic factors.
Conclusion: The incidence of TET2 gene mutation is high in elderly AML patients. AML patients with TET2 and TP53 mutations may benefit from Decitabine-based chemotherapy. However, patients with FLT3-ITD and NRAS mutations have a short survival time, and may have a poor prognosis.
题目: 老年急性髓系白血病患者的基因突变特征及预后分析.
目的: 探讨老年急性髓系白血病患者的基因突变特征及对预后的影响.
方法: 回顾性分析2016年4月至2019年10月在空军军医大学唐都医院血液科接受治疗的54例年龄≥60岁初治急性髓系白血病患者的临床资料，采用二代测序技术检测34个急性髓系白血病/骨髓增生异常综合征/骨髓增殖性肿瘤相关突变基因，分析其临床特征、治疗效果及对预后的影响.
结果: 54例患者均采用DAC+CAG方案诱导治疗，经过1-2个疗程治疗达完全缓解者36例（66.7%），总有效率75.9%，中位生存时间为17个月。突变频率较高的基因依次为TET2（33.3%）、CEBPA（31.5%）、DNMT3A （18.5%）、ASXL1（16.7%）、NRAS（14.8%）、RUNX1（14.8%）、FLT3-ITD（12.9%）、TP53（12.9%）、NPM1（12.9%）、 IDH2（12.9%）。7例伴TP53突变的患者中6例经1-2个疗程诱导治疗获得完全缓解，但对预后的影响无统计学差异。伴FLT3-ITD和NRAS基因突变患者的总生存时间均短于无突变的患者（P=0.47，P=0.48）。多因素分析显示，FLT3-ITD及NRAS基因突变是预后不良因素.
结论: 老年急性髓系白血病患者TET2基因突变发生率高。伴TET2和TP53基因突变的老年急性髓系白血病患者可从地西他滨中获益，而伴FLT3-ITD、NRAS基因突变的患者生存时间短，可能预后不良.
Keywords: TET2; acute myeloid leukemia; gene mutation.