摘要
目的探讨骨髓增生异常综合征(myelodysplastic syndromes,MDS)患者基因突变与临床特征及其预后积分的关系.方法收集2015年12月至2018年3月宁波市第一医院血液科诊断的87例初发的MDS患者相关基因突变及其临床实验室资料,分析不同基因的突变率及分布亚型.比较高频基因突变(TET2、TP53、ASXL1、RUNX1和SF3B1)患者临床特征和国际预后评分系统(修订版)(Revised International Prognostic Scoring System,IPSS-R)的积分情况.结果87例MDS患者中,检测的14种基因中至少含有1种突变的概率为62.1%(54/87),各亚型的基因突变率存在明显差异,以MDS-EB-2发生率最高(100%),MDS-SLD发生率最低(38.9%).与非突变组相比,突变组患者的乳酸脱氢酶、β2微球蛋白和骨髓原始细胞比例明显增高(P分别为0.027、<0.01和<0.01),而血红蛋白明显减低(P=0.046).伴有基因突变的MDS患者IPSS-R积分明显高于非突变组(P<0.01),其中TP53突变组的IPSS-R积分(7.82±1.83)明显高于对照组(3.77士1.66,P<0.01);而TET2、ASXL1、RUNX1、SF3B1突变组与非突变组IPSS-R积分差异均无统计学意义(P>0.05).结论基因突变是MDS的常见现象,伴有基因突变的MDS患者具有独特临床实验室特征,尽管大多基因突变预后价值尚存争议,但TP53是其预后不良的指标.
Objective To explore the correlation of genetic mutations and clinical features of myelodysplastic syndromes(MDS)with scores of Revised International Prognostic Scoring System(IPSS-R).Methods Eighty-seven patients with de novo MDS were enrolled.Mutations of MDS-related genes and clinical features were used to determine the incidence and subtype of mutations.Clinical features and IPSS-R scores of the patients with high frequency mutations involving TET2,TP53,ASXL1,RUNX1 and SF3B1 genes were compared.Results Fifty-four patients(62.1%)harbored at least one point mutation.The incidences of various mutations were significantly different,with the incidence of MDS-EB-2 being 100%and MDS-SLD being only 38.9%.Compared with the wild types,patients harboring mutations had higher lactate dehydrogenase,higherβ2 microglobulin,higher percentage of bone marrow blast cells and lower hemoglobin levels(P=0.027,<0.01,<0.01,0.046,respectively).The IPSS-R scores of MDS patients with mutations were significantly higher than the wild types(P<0.01).The IPSS-R scores of the TP53 mutation groups were 7.82±1.83,which was significantly higher than the control group(3.77±1.66,P<0.01).No difference was found between the IPSS-R between patients carrying TET2,ASXL1,RUNX1,and SF3B1 mutations or the wild types(P>0.05).Conclusion Genetic mutations are commonly found in MDS.MDS patients with mutations have unique clinical laboratory characteristics.Although the prognostic value of most genes is controversial,TP53 is an definite indicator of poor prognosis.
作者
周旭艳
金河
牧启田
盛立霞
赖斌斌
朱慧玲
欧阳桂芳
Zhou Xuyan;Jin He;Mu Qitian;Sheng Lixia;Lai Binbin;Zhu Huiling;Ouyang Guifang(The First Affiliated Hospital of Medical School of Ningbo University,Zhejiang,315211;Ningbo First Hospital(Ningbo Hospital of Zhejiang University),Ningbo,Zhejiang 315010,China)
出处
《中华医学遗传学杂志》
CAS
CSCD
2019年第10期953-956,共4页
Chinese Journal of Medical Genetics
基金
国家自然科学基金(81401321)
浙江省自然科学基金(LY17H160005)
浙江省中医药管理局基金(2015ZZ018).
关键词
骨髓增生异常综合征
基因突变
IPSS-R积分
Myelodysplastic syndrome
Mutation
Revised International Prognostic Scoring System
