伴3号染色体异常的骨髓增生异常综合征临床特性分析

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英文篇名：Clinical features of myelodysplastic syndrome with chromosome 3 abnormality 作者：高盼盼 ; 陈莹 ; 吴莹 ; 邬宁宁 ; 石淙 ; 邹多兵 ; 牧启田 英文作者：GAO Panpan;CHEN Ying;WU Ying;Medical College, Ningbo University; 关键词：3号染色体异常 ; 骨髓增生异常综合征 ; 临床特征 ; 预后 英文关键词：Chromosome 3 aberration;;Myelodysplastic syndrome;;Clinical characteristics;;Prognosis 中文刊名：ZJYE 英文刊名：Zhejiang Medical Journal 机构：宁波大学医学院;宁波市第一医院干细胞移植实验室; 出版日期：2019-05-30 出版单位：浙江医学 年：2019 期：v.41 基金：浙江省自然科学基金资助项目(LY14H080001);; 宁波市科技计划项目(2014A610217) 语种：中文; 页：ZJYE201910020 页数：4 CN：10 ISSN：33-1109/R 分类号：71-74

摘要

目的分析伴3号染色体异常的骨髓增生异常综合征(MDS)患者的临床特征。方法回顾性分析283例MDS患者的临床资料,观察伴3号染色体异常患者的临床特征,并与伴其他染色体异常患者作比较;比较伴3号染色体异常与复杂核型、单体核型患者的预后情况。结果 283例患者中伴3号染色体异常的有13例(4.59%),其中MDS-EB-2型10例,MDS-EB-1型1例,MDS-MLD型1例,MDS-U型1例。伴3号染色体异常患者中del(3q)4例;t(3q)4例,其中t(3;3)易位1例;der(3q)3例;3p异常2例。伴3号染色体异常患者与伴其他染色体异常患者性别、年龄、ANC、Hb、PLT比较差异均无统计学意义(均P>0.05);伴3号染色体异常患者骨髓原始细胞比例、复杂核型比例、单体核型比例均高于伴其他染色体异常患者(均P<0.05)。13例伴3号染色体异常患者中5例转化为急性髓系白血病(AML),中位转白时间3.7个月,中位生存时间8.0个月。伴3号染色体异常与复杂核型、单体核型患者1年生存率分别为46.15%、53.57%、58.67%,伴3号染色体异常患者1年生存率与复杂核型、单体核型MDS患者比较差异均无统计学意义(均P>0.05)。结论伴3号染色体异常在MDS患者中并不少见,多为MDS-EB-2型,多属于单体核型或复杂核型,转化AML的风险明显增加,预后极差。
        Objective To analyze the clinical features of myelodysplastic syndrome(MDS) with chromosome 3 abnormality.Methods The clinical data of 283 MDS patients were retrospectively reviewed. The clinical characteristics of MDS patients with chromosome 3 abnormality were compare with those of MDS patients with other chromosome abnormality. Meanwhile, the prognosis of MDS patients with chromosome 3 abnormality, complex karyotype and monomer karyotype was compared. Results Of 283 cases of patients with MDS, chromosome 3 aberration was detected in 13(4.59%) cases. Among them, 10 cases were MDS-EB-2, 1 case was MDS-EB-1, 1 case was MDS-MLD and 1 case was MDS-U. Del(3 q) was found in 4 cases, and t(3 q) was also found in 4 cases including 1 case of t(3;3).Besides, there were 3 cases of der(3 q) and 2 cases of 3 p anomaly. There was no significant difference in gender, age, ANC, Hb, PLT between MDS patients with chromosome 3 abnormality and MDS patients with other chromosome abnormality(all P >0.05). The proportion of bone marrow primitive cells, complex karyotype and monomer karyotype in MDS patients with chromosome 3 abnormality was higher than that in MDS patients with other chromosome abnormality(all P <0.05). Among 13 patients with MDS with chromosome 3 abnormality, 5 patients were converted to acute myeloid leukemia(AML), with median bleaching time of 3.7 months and median survival time of 8.0 months. The 1-year survival rate of patients with MDS with chromosome 3 abnormality and complex karyotype and monomer karyotype was46.15%, 53.57% and 58.67%, respectively. There was no significant difference in the survival time between patients with MDS with chromosome 3 abnormality and those with complex karyotype MDS and monomer karyotype MDS( P >0.05). Conclusion Chromosome 3 aberration is not rare in MDS, the MDS-EB-2 subtype is most common and tends to accompany with monosomal karyotype or complex karyotype. The risk of AML transfer is increased significantly and the prognosis is poor.

引文

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