张凯 向阳 张彦丽 常晓慧 陈元贤

[摘要] 目的 探討不同核型异常数量的骨髓增生异常综合征（MDS）患者的临床特征及其预后意义。 方法 回顾性研究2015年1月至2018年7月就诊于中国人民解放军第967医院血液科的124例经染色体核型分析患者的临床及随访资料，分析不同数量染色体核型异常在患者中的发生率、患者的临床特征及对患者预后的影响。 结果 124例患者中共检测出59例染色体异常，检出率为47.58%，其中1个染色体核型异常33例（26.61%），2个染色体核型异常9例（7.26%），复杂核型（CK）17例（13.71%）。根据染色体核型异常数量将患者分为三组，1个染色体核型异常组与2个染色体核型异常及复杂核型组在性别、血红蛋白水平、白细胞数、中性粒细胞数、血小板数、网织红细胞比例、骨髓原始细胞比例、总胆红素水平、乳酸脱氢酶水平、WHO分型等方面三者比较，差异无统计学意义（P>0.05）。三组2年生存率分别为80.3%、58.3%、41.6%，1个染色体异常组与复杂核型组比较，差异有统计学意义（P<0.05）。 结论 1个染色体核型异常克隆可能较2个染色体核型异常克隆及复杂核型更易发生。此外，染色体异常核型数量愈多患者生存预后可能愈差。

[关键词] 骨髓增生异常综合征;染色体核型;临床特征;预后

[中图分类号] R551.3          [文献标识码] B          [文章编号] 1673-9701（2021）31-0115-04

[Abstract] Objective To investigate the clinical features of myelodysplastic syndrome（MDS） patients with different karyotype abnormality quantity and its prognostic significance. Methods The clinical and follow-up data of 124 patients with chromosome karyotype analysis admitted to the Department of Hematology， No.967 Hospital of Chinese People′s Liberation Army Joint Logistics Support Force from January 2015 to July 2018 were retrospectively researched， and the incidence of different chromosomal karyotype abnormality quantity in patients，the clinical features of patients and their impacts on prognosis were analyzed. Results A total of 59 cases of chromosome abnormality quantity were detected in 124 patients， with a detection rate of 47.58%，in which there were 33 cases（26.61%） with one chromosome karyotype abnormality，9 cases（7.26%） with two chromosome karyotype abnormalities and 17 cases （13.71%） with complex karyotype（CK） abnormalities. According to the quantity of karyotype abnormality，the patients were divided into three groups， including the group with one chromosome karyotype abnormality（n=33），the group with two chromosome karyotype abnormalities（n=9） and the group with CK abnormalities （n=17）.There were no statistically significant differences in gender， hemoglobin level，leukocyte count， neutrophil count， platelet count， reticulocyte ratio， bone marrow primordial cell ratio， total bilirubin level，lactate dehydrogenase level and WHO classification among the three groups（P>0.05）.The 2-year survival rates of the three groups were 80.3%，58.3% and 41.6%，respectively.There was statistically significant difference between the group with one chromosome karyotype abnormality and the group with CK abnormalities（P<0.05）. Conclusion One chromosome karyotype clone abnormality may be more likely to occur than two chromosome karyotype clone abnormalities and the CK clone abnormalities. In addition， the more chromosome karyotype abnormalities， the worse the survival and prognosis of patients may be.

[Key words] Myelodysplastic syndrome; Chromosome karyotype; Clinical features; Prognosis

骨髓增生异常综合征（Myelodysplastic syndromes，MDS）是一组起源于造血干细胞的克隆性疾病，临床以外周血细胞减少、无效造血、发育异常和高风险转化为急性髓系白血病（Acute myeloid leukemia，AML）为特征，其临床表现及预后差异极大[1]。目前临床上MDS患者的个体化治疗很大程度上仍依赖于常规预后评分[国际预后评分系统（IPSS），修订后的IPSS-R]系统[2]。……