TP53基因突变骨髓增生异常综合征患者预后观察  

Observation on the prognosis in patients of myelodysplastic syndrome with TP53 mutation

作　　者：汪勇[1] 丁凯阳 汪琼[1] 余超[1] 吴玉玲[1] WANG Yong;DING Kaiyang;WANG Qiong;YU Chao;WU Yuling(Department of Hematology,Huangshan City People′s Hospital,Huangshan 245000,China)

机构地区：[1]黄山市人民医院血液内科,安徽黄山245000 [2]中国科学技术大学附属第一医院西区安徽省肿瘤医院血液科,安徽合肥230000

出　　处：《皖南医学院学报》2021年第3期225-228,共4页Journal of Wannan Medical College

基　　金：安徽省重点研究与开发计划项目(1804h08020249)。

摘　　要：目的:探讨TP53基因突变阳性骨髓增生异常综合征(MDS)患者的临床特征和预后因素,为TP53基因突变阳性MDS的治疗和预后评估提供更多证据。方法:回顾性分析黄山市人民医院2015年8月~2020年7月30例MDS患者的临床资料,分为TP53基因突变阳性组和TP53基因突变阴性组。6例接受支持治疗,24例接受地西他滨(DAC)或DAC联合预激方案治疗。观察患者生存情况。结果:30例MDS患者TP53突变阳性13例(低危2例,中高危11例),阴性17例(低危2例,中高危15例)。TP53突变阳性组年龄大于阴性组,差异有统计学意义。两组患者性别、MDS分型、复杂核型及预后分层差异无统计学意义。诱导缓解期,TP53突变阳性组完全缓解率(CR)为38.46%,部分缓解率(PR)为15.38%,血液学改善(HI)为38.46%,病死1例(7.69%);TP53突变阴性组CR为29.41%,PR为29.41%,HI为23.53%,病死3例(17.65%),差异无统计学意义。中位随访时间26.7个月。TP53突变阳性组、阴性组复发率分别为66.67%、42.86%(P=0.225);两组患者2年总生存率(OS)分别为30.76%、64.70%(P=0.169),差异无统计学意义,中高危患者2年OS分别为18.18%、60.00%(P=0.016),差异有统计学意义。结论:TP53突变阳性与阴性患者短期内CR、PR、HI、早期病死差异无统计学意义,但在比例上,TP53突变阳性组CR高于TP53突变阴性组,可能与TP53突变患者对DAC敏感有关。对于长期生存,中高危患者TP53突变阳性组低于突变阴性组,TP53突变阳性仍提示预后不良。Objective:To investigate the clinical features of myelodysplastic syndrome(MDS)with TP53 mutation and the factors affecting prognosis of this condition for more clinical evidence to estimate the prognosis in patients of MDS with TP53 mutation.Methods:Clinical data were collected in 30 cases of MDS treated in our hospital between August 2015 and July 2020.The cases were divided into positive TP53 mutation and negative TP53 mutation group.Of the 30 patients,6 received supportive treatment,and 24 underwent decitabine(DAC)regimen or combination of DAC with priming regimen.The survival rate was observed in both groups.Results:In the 30 MDS patients,TP53 mutation occurred in 13(2 low-risk and 11 intermediate-and high-risk),and was absent in 17(2 low-risk and 15 intermediate-or high-risk).The patient′s age in both group was different at diagnosis,yet TP53 mutation was dominant in older patients.There was no significant difference in gender,MDS classification,complex karyotype and prognostic stratification between the two groups.During remission induction,the complete remission(CR),partial remission(PR),hematological improvement(HI)and early death in two groups were 38.46%vs.29.41%;15.38%vs.29.41%;38.46%vs.23.53%;7.69%vs.17.65%,respectively(P>0.05),without statistical difference.Median follow-up of 26.7 months showed that the relapse rate was 66.67%in the TP53 mutation group and 42.86%in non-mutation group respectively(P=0.225).Over survival(OS)in 2 years in two groups was respective 30.76%and 64.70%(P=0.169),and 18.18%and 60.00%for patients with intermediate-or high-risks(P=0.016).Conclusion:There is no significant difference in CR,PR,HI and earth death between the TP53 mutation group and non-mutation group,whereas CR is higher in TP53 mutation group than in non-mutation group,which may be related to the higher sensitivity to DAC in patients with TP53 mutation.The long-term survival rate is significantly lower in TP53 mutation group than in the non-mutation group,suggesting that TP53 mutation represents poor prognosis

关 键 词：TP53 骨髓增生异常综合征 预后 

分 类 号：R551.3[医药卫生—血液循环系统疾病]