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.
题目: 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.
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，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%）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31（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.