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山东大学学报 (医学版) ›› 2019, Vol. 57 ›› Issue (3): 42-48.doi: 10.6040/j.issn.1671-7554.0.2018.708

• 临床医学 • 上一篇    下一篇

骨髓增生异常综合征患者基因突变对地西他滨临床疗效的影响

窦春慧1,邵建华1,董学斌1,张凌2,陈萍1,赵红玉1,顾琳萍1,孙琳1,解杰1,王敏1,王娟1,李娜1,李凡1,李大启1   

  1. 1.山东大学附属济南市中心医院血液科, 山东 济南250013;2.潍坊市益都中心医院消化科, 山东 青州262500
  • 发布日期:2022-09-27
  • 通讯作者: 李大启. E-mail:ldq9194@126.com
  • 基金资助:
    济南市科技局企业自主创新计划(200905035-1)

Effect of gene mutation on the clinical efficacy of decitabine for patients with myelodysplastic syndrome

DOU Chunhui1, SHAO Jianhua1, DONG Xuebin1, ZHANG Ling2, CHEN Ping1, ZHAO Hongyu1, GU Linping1, SUN Lin1, XIE Jie1, WANG Min1, WANG Juan1, LI Na1, LI Fan1, LI Daqi1   

  1. 1. Department of Hematology, Jinan Central Hospital Affiliated to Shandong University, Jinan 250013, Shandong, China;
    2. Department of Gastroenterology, Yidu Central Hospital of Weifang, Qingzhou 262500, Shandong China
  • Published:2022-09-27

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摘要： 目的 探讨基因突变及相关临床指标对接受地西他滨治疗的骨髓增生异常综合征(MDS)患者预后的影响。 方法 收集38例初诊MDS患者临床数据及血液、骨髓液等临床标本,基因序列及染色体核型分析结果,应用单因素及多因素统计分析研究MDS患者的反应率及生存时间,回顾性分析临床指标及基因状况对接受地西他滨治疗的MDS患者预后的影响。 结果 38例初诊患者,92%存在至少1个突变基因,染色体异常检出率为52.6%。患者接受地西他滨单药治疗或地西他滨联合化疗,中位疗程数为4,患者总反应率为63%(24/38)。多因素分析发现,TET2基因突变患者化疗后反应率较未发生突变患者的反应率高(82% vs 48%),差异有统计学意义(P单=0.043,P多=0.034)。随访患者最终死亡12例(32%),所有患者的中位生存时间为27.6个月。多因素生存分析发现,38例MDS患者染色体核型分型好、中等、差的中位生存时间分别为31.4、17.6、10.4个月,IPSS风险分层低危、中危-1、中危-2、高危的中位生存时间分别为31.4、27.6、23.4、11.4个月,血红蛋白≥100 g/L、<100 g/L的中位生存时间分别为31.4、19.4个月,血细胞减少系数0~1、≥2的中位生存时间分别为31.4、17.6个月,差异均有统计学意义(P均<0.05)。TP53基因有无突变患者的中位生存时间分别为16.4、31.4个月,但差异无统计学意义(P=0.097)。 结论 TET2基因突变的患者化疗反应率较未突变患者高,TET2基因突变状态对预测反应率具有重要意义。

关键词: 骨髓增生异常综合征, 地西他滨, 基因突变, 预后

Abstract: Objective To investigate the effect of gene mutation and related clinical indicators on the prognosis of patients with myelodysplastic syndromes(MDS). Methods Clinical data of 38 MDS patients were collected. Clinical specimens such as blood and genetic sequencing and karyotype analysis of bone marrow fluid were also collected. The response rate and survival rate of MDS patients treated with decitabine were statistically analyzed by single factor and multiple factors using SPSS software. The effects of clinical features and gene mutation on the prognosis of MDS patients treated with decitabine were retrospectively analyzed. Results Among the 38 cases, 92% of patients had at 山 东 大 学 学 报 (医 学 版)57卷3期 -窦春慧,等.骨髓增生异常综合征患者基因突变对地西他滨临床疗效的影响 \=-least one mutant gene and the detection rate of chromosome abnormality was 52.6%. Patients accepted monotherapy of decitabine or combined treatment with decitabine. The median number of treatment cycles was 4, and the total response rate was 63%(24/38). Fourteen patients were invalid. Multifactor analysis found that the response rate of patients with TET2 gene mutation was higher than those without mutation(82% vs 48%, Ps=0.043, Pm=0.034). The follow-up patients ended up with 12 deaths(32%). Median survival time of all patients was 27.6 months. Multifactor survival analysis found that chromosome karyotypes were good, intermediate and poor in 38 MDS patients and their survival time were 31.4, 17.6, 10.4 months, respectively. The risk stratification of IPSS were low risk, intermediate-1, intermediate-2, high risk and median survival time were 31.4, 27.6, 23.4, 11.4 months, respectively. Median survival time for patients with hemoglobin ≥100 g/L and <100 g/L were respective 31.4 and 19.4 months. Median survival time for patients with the number of cytopenias with 0-1 and greater than 2 were respective 31.4 and 17.6 months. The indicators mentioned above were statistically different(all P<0.05). Median survival time of patients with and without TP53 mutation were 16.4 and 31.4 months without statistical difference(P=0.097). Conclusion Patients with TET2 gene mutation have higher response rate to chemotherapy than those without mutation.

Key words: Myelodysplastic syndromes, Decitabine, Gene mutation, Prognosis

中图分类号: 

  • R551.3
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