28例儿童骨髓增生异常综合征临床特点和预后分析

Clinical Charcteristics and Prognostic Analysis of 28 cases of Pediatric Myelodysplastic Syndrome

目的:分析28例儿童骨髓增生异常综合征(MDS)的临床特点及预后,筛选影响预后的高危因素,为临床诊疗规范提供思路。方法:回顾性分析1994年3月至2016年7月本院收治的28例新发MDS患儿临床资料,总结发病特点及实验室检查结果,并对所有患儿进行随访,统计预后及筛选影响临床预后的高危因素。结果:28例患儿中,男女比例为1. 8∶1,男性发病率较高;年长儿发病率低;临床症状以三系细胞减少为主,共16例(57. 14%),其余表现为单纯贫血(7. 1%)、单纯血小板减少(7. 1%)、中性粒细胞减少合并贫血(14. 29%)、贫血及血小板减少(14. 28%);骨髓象以增生为主(82. 14%),增生的骨髓象均为病态造血,且病态造血的表现形式及程度不一;骨髓活检表明典型的不成熟前体细胞异常定位(ALIP)比例为33. 33%;染色体核型检查显示,染色体异常的检出率为41. 18%。中位随访时间为1. 75年。5例患儿接受造血干细胞移植术(HSCT),其中4例持续缓解,1例死亡;未接受HSCT的其余23名患儿中,7例确诊后放弃治疗,其余16例接受化疗(2例CR后放弃治疗,5例转化为AML,3例复发,3例持续CR),死亡11例,9例失访。预测全部患儿5年总体生存率(OS)及无事件生存率(EFS)分别为(38. 2±11. 3)%、(35. 3±11. 3)%,其中接受HSCT患儿OS及EFS均明显优于其余患儿,(80. 0±17. 9)%vs(22. 8±11. 5)%(P=0. 039)、(80. 0±17. 9)%vs (17. 5±11. 1)%(P=0. 030)。在本研究的28例患儿中,除接受HSCT(P=0. 016)和外周血血小板减少外(P=0. 006),其余为年龄、性别、骨髓存在小巨核细胞、是否为进展性MDS均对预后无影响(P> 0. 05)。结论:儿童MDS罕见,易误诊,存在高度异质性,预后差,早期诊断至关重要,且预后评估体系急需完善,造血干细胞移植术可能是治愈该病的有效手段。

Objective: To analyze the clinical features and prognosis of 28 children with myelodysplastic syndrome ( MDS) and to screen the high risk factors affecting the prognosis so as to provide the new ideas for standard of clinical diagnosis and therapy.Methods: The clinical data of 28 children with newly diagnosed MDS treated in our hospital from March 1994 to July 2016 were analyzed retrospectively,the features of disease onset and the results of laboratory examination were summarized,all MDS children were followed up,the prognosis and the high risk factors affecting the prognosis were evaluated.Results: In all 28 MDS children,the ratio of male to female was 1.8∶ 1,the incidence of MDS was observed in boys,while the low incidence of MDS was found in older children.The clinical manifestations were mainly the decrease of three series blood cells in 16 cases ( 57.14%) ,other cases presented simple anemia ( 7.1%) ,simple thrombocytopenia ( 7.1%) , neutropenia with anemia ( 14.29%) , and anemia with thrombocytopenia ( 14.28%) .The bone marrow image showed mainly hyperplasia ( 82.14%) ,and the pathological hematopoiesis,moreover the manifistation of pathological hematopoiesis was different in forma and degree; the bone marrow biopsy showed the typical abnormal localization of immature precursor( ALIP) accepted for 33.33%; the chromosome karyotype detection showed the detected rate of chronosome abnormality was 41.18%.The median follow-up time was 1.75 years.5 children with MDS received the hematopoietic stem cell transplantation ( HSCT) ,among them 1 dead and 4 maintained CCR; Out of other 23 patients no-received HSCT,7 cases given up treatment after confirmed diagnosis,16 cases received the chemotherapy ( 2 cases given up treatment after CR,5 cases transformed into AML,3 cases relapsed,3 cases maintained CCR) ,11 cases dead,9 cases failed to be followed up.The 5-years OS rate and EFS rate in all patients were predicted as ( 38.2 ± 11.3) % and ( 35.3 ± 11.3) %, respectively,among them,the OS and EFS rates of patients received the HSCT allo superior to those of patients did not received HSCT [( 80.0 ± 17.9) % vs ( 22.8 ± 11.5) %]( P<0.05) and [( 80.0 ± 17.9) % vs ( 17.5 ± 11.1) %]( P<0.05) .Analysis showed that in addition to receiving the HSCT( P<0.05) ,platelet decrease in peripheral blood( P<0.01) ,the age,sex,existance of micromegakaryocytes in bone marrow and progressive MDS or no influenced not on the prognosis( P>0.05) .Conclusion: The children MDS is rare and easy to be misdiagnosis,moreover displays more high heterogeneity and poor prognosis,thereby the early diagnosis is crucial,in addition,the system of prognosis evaluation is imperative to be perfected.The HSCT may be the effective method for curative treatment of childhood MDS.