Objective: To analyze the clinical characteristics and prognosis of 40 children with myelodysplastic syndrome (MDS), and provide ideas for clinical diagnosis and treatment.
Methods: The clinical characteristics, risk stratification, and different treatment regimens of 40 cases with MDS admitted in Department of Hematology of Children's Hospital of Soochow University from January 1, 2011 to December 31, 2017 was retrospectively analyzed. Kaplan-Meier survival curve were used to estimate 3-year overall survival (OS) rate and event-free survival (EFS) rate.
Results: In 40 cases, the ratio of male to female was 1.4∶1.0, male was more than female, and median age was 6.0 years old. Among them, refractory cytopenia (MDS-RCC) was the most common type, and 11 cases were chromosomal abnormalities, 21 cases genetic abnormalities. Fifteen cases accepted hematopoietic stem cell transplantation (HSCT) treatment, while 25 cases did not but drug therapy alone. The 3-year OS rate of the cases who accepted HSCT or not was (72.2±12.2)% and (35.3±10.2)% (P=0.039), 3-year EFS rate was (65.0±12.9)% and (19.2±8.4)% (P=0.012), respectively. Cox regression analysis showed that age < 7 years old (P=0.0333), initial diagnosed platelet < 50×109/L (P=0.007), presence of complex karyotypes and/or gene mutations (P=0.0002), and treatment without HSCT (P=0.016) were the high-risk factors of prognosis. All the children were classified according to IPSS, WPSS and IPSS-R, while analysis result showed that the above three risk assessment had limitations for risk assessment of MDS in children, they could not comprehensively assess the prognosis of children with MDS.
Conclusion: MDS-RCC in children is more common. Cox multivariate analysis shows that age < 7 years old, initial diagnosed platelet < 50×109/L, presence of complex karyotypes and/or gene mutation, and treatment without HSCT are the high-risk factors of prognosis in children with MDS. HSCT is the most effective treatment to cure children with MDS at present. The current methods such as IPSS-R commonly used in assessment of prognosis in children with MDS show obvious limitation.
题目: 儿童骨髓增生异常综合征临床特点和预后分析.
目的: 分析40例儿童骨髓增生异常综合征（MDS）的临床特点及预后，为临床诊疗提供参考.
方法: 回顾性总结苏州大学附属儿童医院血液科2011年1月1日至2017年12月31日收治的40例初诊为MDS患儿的临床特点、危险分层和不同治疗方案对预后的影响。Kaplan-Meier生存曲线分析患儿3年总生存率和无事件生存率.
结果: 40例患儿中，男女比例1.4∶1.0，男性略多于女性，中位年龄6.0岁。其中儿童难治性血细胞减少症是最常见类型，染色体异常11例，合并基因异常12例。接受造血干细胞移植（HSCT）15例，未进行HSCT而行单纯药物治疗25例。接受HSCT治疗和非HSCT治疗的3年总生存率分别为（72.2±12.2）%和（35.3±10.2）%（P=0.039），无事件生存率分别为（65.0±12.9）%和（19.2±8.4）%（P=0.012）。COX回归分析显示，年龄<7岁（P=0.033）、初诊血小板<50×109/L（P=0.007）、存在复杂核型和/或基因突变（P=0.0002）、未接受HSCT治疗（P=0.016）是影响儿童MDS预后的高危因素。40例患儿依据国际预后积分系统（IPSS）、WHO分型预后积分系统（WPSS）及修订的国际预后积分系统（IPSS-R）3种方法分类，分析显示以上3类风险评估方法对儿童MDS进行风险评估都存在局限性，不能全面评估儿童MDS预后.
结论: 儿童MDS以儿童难治性血细胞减少症多见。COX多因素分析显示，年龄<7岁、初诊血小板<50×109/L、存在复杂核型和/或基因突变、未接受HSCT治疗是影响患儿预后的高危因素。HSCT是目前治愈儿童MDS的最有效手段。目前临床评估儿童MDS预后的IPSS-R等方法具有明显局限性.
Keywords: children; clinical characteristics; myelodysplastic syndrome; prognosis; risk stratification.