MDS基因突变及三种剂量DAC联合预激方案治疗的疗效观察  

Observation on the efficacy of MDS gene mutation and three doses of DAC combined with pre-excitation regimen

作　　者：李正发[1] 毛瑞娇 陆杨柳 夏利玲 陆俊蓉 代云 LI Zhengfa;MAO Ruijiao;LU Yangliu;XIA Liling;LU Junrong;DAI Yun(Department of Hematopathology,The First People s Hospital of Yunnan Province/Affiliated Medical College of Kunming University of Science and Technology,Kunming Yunnan 650032,China;Medical School of Kunming University of Science and Technology,Kunming Yunnan 650032,China;Yunnan University of Traditional Chinese Medicine,Kunming Yunnan 650032,China)

机构地区：[1]云南省第一人民医院/昆明理工大学附属医学院血液内科,云南昆明650032 [2]昆明理工大学医学院,云南昆明650032 [3]云南中医药大学,云南昆明650032

出　　处：《云南医药》2024年第3期16-19,共4页Medicine and Pharmacy of Yunnan

基　　金：云南省临床医学中心专项(2019LCZXKF-XY01);云南省万人计划“名医”专项(YNWR-MY-2019-023);昆明市卫生技术中心专项[2020-SW(技)-32]。

摘　　要：目的 探讨MDS细胞分子遗传学临床特点及三种剂量DAC联合预激方案治疗的疗效。方法 采用WHO-MDS诊断分型标准,用G/R显带染色体分析;NGS二代测序突变基因;三种不同剂量DAC联合预激化疗方案治疗中高危MDS患者86例,A组(DAC20mg/m^(2)),B组(DAC15mg/m^(2)+CAG),C组(DAC15mg/m^(2))。结果 在86例MDS患者中,共检测到55(63.95%)例基因突变。共检测到26种基因突变类型。分别是:FLT3,TET2,CEBPA,NPM1,RUNX1,STAG2,IDH2,DNMT3A,WT1,EZH2,GATA2,IKZF1,ASXL1,NRAS,SRSF2,RAD21,TP53,CSF3R,IDH1,ETV5,SMC3,AML1-ETO,SF3B1。前5位的基因是:TET2,DNMT3A,ASXL1,SF3B1,NRAS。治疗方案完成≥2疗程患者占94.2%;有效率:A组(93.3%),B组(96.4%),C组(92.8%);ORR 80.8%。完成≥4疗程患者例占84.8%:有效率:A组(86.7%),B组(85.7%),C组(82.1%);ORR 84.9%。A、B、C 3组间有效率χ2检验无显著性差异(P>0.05)。结论 三种不同剂量地西他滨组合方案均可用于中高危MDS患者。根据患者体能状况评分系统选择个体化治疗中高危MDS更为重要。Objective To investigate the clinical characteristics of MDS cell molecular genetics and the efficacy of three doses of DAC combined with pre-excitation regimens.Methods According to WHO-MDS diagnostic typing criteria,analyzed by G/R banding chromosome;NGS second-generation sequencing of mutant genes.Three different doses of DAC combined with pre-excitation chemotherapy regimens were used to treat 86 patients with moderate-high risk MDS.Group A(DAC20mg/m^(2)),group B(DAC15mg/m^(2)+CAG)and group C(DAC15mg/m^(2)).Results A total of 55(63.95%)genetic mutations were detected in 86 patients with MDS.A total of 26 types of genetic mutations were detected.They were FLT3,TET2,CEBPA,NPM1,RUNX1,STAG2,IDH2,DNMT3A,WT1,EZH2,GATA2,IKZF1,ASXL1,NRAS,SRSF2,RAD21,TP53,CSF3R,IDH1,ETV5,SMC3,AML1-ETO,SF3B1.The top five genes were TET2,DNMT3A,ASXL1,SF3B1 and NRAS.94.2%of patients completed≥2 courses of treatment;The effective rates were as follow:Group A(93.3%),Group B(96.4%)and Group C(92.8%);Overall effective rate(ORR)was 80.8%.84.8%of patients who completed≥4 courses of treatment,the effective rate were as follow:group A(86.7%),group B(85.7%),group C(82.1%);Total effective rate(ORR)was 84.9%.There was no significant difference in effective rate between groups A,B and C(P>0.05).Conclusions Three different doses decitabine combinations can be used in patients with moderate-high-risk MDS.It is more important to select individualized treatment for medium-high-risk MDS according to the patient s physical status scoring system.

关 键 词：中高危MDS 基因突变 地西他滨 预激方案 总有效率 

分 类 号：R551.3[医药卫生—血液循环系统疾病]