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].
作者信息
Qian Jin, Xia Jun, Xie Xin, Wang Jing, Mao Jing-Jue, Zhou Xin
机构信息
Department of Hematology, The Affiliated Wuxi People's Hospital of Nanjing Medical University, Wuxi 214023, Jiangsu Province, China.
Department of Hematology, The Affiliated Wuxi People's Hospital of Nanjing Medical University, Wuxi 214023, Jiangsu Province, China,E-mail：
出版信息
Zhongguo Shi Yan Xue Ye Xue Za Zhi. 2021 Oct;29(5):1528-1532. doi: 10.19746/j.cnki.issn.1009-2137.2021.05.024.
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 5q- syndrome, 41 were MDS-EB-I, 35 were MDS-EB-II, 27 were MDS-SLD, 46 were MDS-MLD, 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 the 13 patients with chromosome 21 karyotype abnormalities, there were 5 cases with simple +21 karyotype, 1 case with del (21q12), 1 case with +8, +21, 1 case with i(21q), 1 case with 20q-, +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-I and 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.
目的
探讨21号染色体核型异常的骨髓增生异常综合征（MDS）患者的临床特征。
方法
回顾性分析155例MDS患者的临床资料，分析21号染色体核型异常患者的临床特征、生存情况及影响预后的因素。
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，MDS-RS-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%）出现21号染色体异常。在13例21号染色体核型异常患者中，单纯+21核型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；其中MDS-SLD 2例，MDS-MLD 4例，MDS-EB-I 5例，MDS-EB-II 2例。患者的中位生存时间为3.1（0.1-6.7）个月。
结论
21号染色体核型异常在MDS中少见，且预后较无21号染色体异常的患者差。
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