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目的探讨骨髓增生异常综合征(MDS)患者染色体异常核型数量与疾病进展和预后的关系。方法对71例MDS患者进行染色体核型分析,了解MDS患者染色体异常的发生率;计数20 个核分裂相,根据染色体异常核型数量,将患者分为染色体核型正常组、染色体异常核型分裂相≤5个组和染色体异常核型分裂相>5个组,中位随访时间分别为27．0(6-83),22．5(5-90),13．5(1-48) 个月,比较各组患者的白血病转化率、死亡率和生存时间。结果 71例MDS患者中44例(62．0％)患者出现染色体异常核型,其中难治性贫血(RA)、难治性血细胞减少症伴多系发育异常(RCMD)、RA伴原始细胞增多(RAEB)出现染色体异常核型频率分别为76．9％、55．8％、75．0％。各亚型染色体异常核型出现的频率差异无统计学意义;在染色体异常核型类型中复杂核型(两种以上核型异常)最多,为 21例(占异常染色体组的47．7％),其次为+8,-7,20q-,分别为8例、2例和2例,其他异常核型均为1例;染色体异常核型分裂相≤5个组的患者有28例(63．6％),>5个组的患者有16例(36．4％)。 71例MDS患者中有18例(25．4％)转化为白血病,其中染色体核型正常组的27例患者有5例 (18．5％)转化为白血病;染色体异常核型分裂相≤5组的28例患者有7例(25．0％)转化为白血病, 25％患者白血病转化中位时间为42个月;染色体异常核型分裂相>5个组的16例患者有6例 (37．5％)转化为白血病,25％患者白血病转化中位时间为6个月。71例MDS患者中死亡29例 (40．8％),存活42例(59．9％)。染色体核型正常组MDS患者中有8例(29．6％)死亡,染色体异常核型分裂相≤5个组患者中有12例(42．9％)死亡,染色体异常核型分裂相>5个组患者中有9例 (56．3%)死亡。3组患者中位生存时间分别为大于60个月、47个月和24个月。结论染色体异常核型数量是影响MDS患者病情进展和预后的重要指标,提示该指标反映MDS异常克隆负荷。
Objective To investigate the relationship between the number of karyotypes and the progression and prognosis of patients with myelodysplastic syndrome (MDS). Methods Chromosomal karyotype analysis was performed in 71 cases of MDS patients to understand the incidence of chromosomal abnormalities in MDS patients. Twenty nuclei were counted. According to the number of karyotypes, the patients were divided into normal group, chromosomal abnormal karyotype ≤5 groups and chromosomal abnormal karyotype> 5 groups, the median follow-up time was 27.0 (6-83), 22.5 (5-90), 13.5 (1-48) months , The leukemia conversion rate, mortality and survival time of each group were compared. Results Of the 71 MDS patients, 44 (62.0%) patients had chromosomal abnormalities, including refractory anemia (RA), refractory cytopenia with multiple lineage dysplasia (RCMD), and RA with blasts (RAEB) showed chromosomal abnormalities karyotype frequencies were 76.9%, 55.8%, 75.0%. There was no significant difference in the frequencies of abnormal karyotypes in all subtypes. Among the karyotypes of chromosomal abnormalities, the number of complex karyotypes (more than two karyotypes were abnormal) was the highest, accounting for 21.7% (accounting for 47.7% of the abnormal chromosomes) , Followed by +8, -7, 20q-, respectively, 8 cases, 2 cases and 2 cases, all other abnormal karyotypes were 1 case; chromosomal aberrations karyotypic split phase ≤ 5 groups of patients in 28 cases (63. 6%) and 16 patients (36.4%) in> 5 groups. Eighteen of 71 (25.4%) MDS patients were converted to leukemia, of which 27 (18.5%) with normal karyotype turned into leukemia; the chromosomal abnormal karyotype (25.0%) were converted to leukemia in 28 of the 28 patients. The median time to conversion of leukemia was 42 months in 25% of patients and 6 of 16 patients (> 5%) into leukemia, leukemia conversion median time in 25% patients for 6 months. Among 71 MDS patients, 29 died (40.8%) and 42 survived (59.9%). 8 (29.6%) died of MDS in the group with normal chromosome karyotype, 12 (42.9%) died of chromosomal aberration karyotype with less than 5 groups, and the chromosomal abnormal karyotype was> 5 Nine patients (56.3%) died in one group. The median survival time in the three groups was> 60 months, 47 months and 24 months, respectively. Conclusion The number of chromosomal abnormal karyotypes is an important index that affects the progression and prognosis of patients with MDS, suggesting that this index reflects the abnormal clonal load of MDS.