伴21号染色体核型异常的骨髓增生异常综合征患者的临床特征  

Clinical Characteristics of Myelodysplastic Syndrome with Patients Chromosome 21 Karyotype Abnormality

作　　者：钱瑾[1] 夏珺[1] 谢新[1] 王婧[1] 毛静珏[1] 周新[1] QIAN Jin;XIA Jun;XIE Xin;WANG Jing;MAO Jing-Jue;ZHOU Xin(Department of Hematology,The Affiliated Wivci People's Hospital of Nanjing Medical University,WiLxi 214023,Jiangsu Province,China)

机构地区：[1]南京医科大学附属无锡市人民医院血液科,江苏无锡214023

出　　处：《中国实验血液学杂志》2021年第5期1528-1532,共5页Journal of Experimental Hematology

摘　　要：目的:探讨伴21号染色体核型异常的骨髓增生异常综合征(MDS)患者的临床特点。方法:回顾性分析155例MDS患者的临床资料,并对伴21号染色体核型异常患者的临床特征、生存及预后相关因素进行分析。结果:155例MDS患者中,5q-综合征4例,MDS-EB-I 41例,MDS-EB-II 35例,MDS-SLD 27例,MDS-MLD 46例,MDSRS-SLD 1例,MDS-U 1例;中位随访时间为11.0(0.1-120.9)个月。155例MDS患者中,13例(9.0%)为伴21号染色体核型异常;其中单纯+21 5例,del(21q12) 1例,+8、+21 1例,i(21q) 1例,20q-、+21 1例,涉及21号染色体的复杂核型4例;MDS-SLD 2例,MDS-MLD 4例,MDS-EB-I 5例,MDS-EB-II 2例。13例患者的中位生存期为3.1(0.1-6.7)个月。结论:伴21号染色体异常在MDS中少见,且预后较不含21号染色体核型的患者差。Objective:To investigate the clinical characteristics of myelodysplastic syndrome(MDS)patients with chromosome 21 karyotype abnormality.Methods:The clinical data of 155 patients with MDS were retrospectively analyzed,the clinical characteristics,survival and factors affecting prognosis of chromosome 21 karyotype abnormality patients were analyzed.Results:Among 155 MDS patients,4 were 5 q-syndrome,41 were MDS-EB-Ⅰ,35 were MDSEB-Ⅱ,27 were MDS-SLD,46 were MDS-MLD LD,1 was MDS-RS-SLD,and 1 was MDS-U.The median follow-up time was 11.0(0.1-120.9)months.Among 155 MDS patients,13(9.0%)showed chromosome 21 abnormalities.Among the13 patients with chromosome 21 karyotype abnormalities,there were 5 cases with simple+21 karyotype,1 case with del(21 q12),1 case with+8,+21,1 case with i(21 q),1 case with 20 q-,+21,and 4 cases with complex karyotype involving chromosome 21;including 2 cases of MDS-SLD,4 cases of MDS-MLD,5 cases of MDS-EB-Ⅰand 2 cases of MDS-EB-Ⅱ.The median survival time of the patients was 3.1(0.1-6.7)months.Conclusion:Chromosome 21 karyotype abnormality is rare in MDS,and the prognosis is worse than the patients without chromosome 21 abnormalities.

关 键 词：骨髓增生异常综合征 核型分析 +21染色体异常 

分 类 号：R551.3[医药卫生—血液循环系统疾病]