骨髓增生异常综合征/骨髓增殖性肿瘤伴环形铁粒幼细胞和血小板增多4例  

Myelodysplastic syndrome/myeloproliferative neoplasms with ring sideroblasts and thrombocytosis: 4 cases

作　　者：肖娟娟 叶少杰 郭慧梅[1] 赵松颖[1] 王静[1] 薛华[1] Xiao Juanjuan;Ye Shaojie;Guo Huimei;Zhao Songying;Wang Jing;Xue Hua(Department of Hematology,Affiliated Hospital of Hebei University,Baoding 071000,China)

机构地区：[1]河北大学附属医院血液科,保定071000

出　　处：《白血病．淋巴瘤》2024年第6期352-356,共5页Journal of Leukemia & Lymphoma

摘　　要：目的加强对骨髓增生异常综合征/骨髓增殖性肿瘤伴环形铁粒幼细胞和血小板增多(MDS/MPN-RS-T)的诊断及个体化治疗的认识。方法回顾性病例系列研究。回顾性分析2015年9月至2021年5月河北大学附属医院收治的4例MDS/MPN-RS-T患者的临床资料、诊治过程及预后, 并复习相关文献。结果 4例患者均为男性, 年龄63~75岁。例1、例2为修订的国际预后评分体系(IPSS-R)高危组, 合并ASXL1突变及高危细胞遗传学异常, 多种方案治疗效果差, 转化为急性髓系白血病(AML), 因疾病进展死亡。例3为IPSS-R中危组, 前期以骨髓增生异常综合征(MDS)伴环形铁粒幼细胞增多为主要表现, 治疗过程中转化为MDS/MPN-RS-T, 后续治疗过程中发生JAK2突变;经来那度胺治疗后, 脱离输血, 病情稳定。例4为IPSS-R中危组, 来那度胺治疗效果显著, 病情稳定。结论来那度胺能够明显改善MDS/MPN-RS-T患者的输血依赖, ASXL1突变及高危细胞遗传学异常可能与AML转化相关。Objective:To enhance the understanding of the diagnosis and individualized treatment of myelodysplastic syndrome/myeloproliferative neoplasms with ring sideroblasts and thrombocytosis(MDS/MPN-RS-T).Methods:A retrospective case series study was conducted.The clinical data,diagnosis and treatment process and prognosis of 4 patients with MDS/MPN-RS-T admitted to Affiliated Hospital of Hebei University from September 2015 to May 2021 were retrospectively analyzed,and the related literature was reviewed.Results:All the 4 patients were male,aged 63 to 75 years.Patients 1 and 2 were classified as revised international prognostic scoring system(IPSS-R)high-risk group,combined with ASXL1 mutation and high risk cytogenetic abnormality.The therapeutic effect of various treatment regimens was poor,and they were converted to acute myeloid leukemia(AML)and then died due to disease progression.Patient 3 was classified as IPSS-R medium-risk group.His main manifestation was myelodysplastic syndrome(MDS)combined with ring sideroblasts in the early stage and was transformed into MDS/MPN-RS-T during the treatment,and JAK2 mutation occurred in the subsequent treatment.After lenalidomide treatment,the patient was removed from blood transfusion and the condition was stable at present.Patient 4 was classified as IPSS-R medium-risk group,and lenalidomide showed significant therapeutic effects and he was in stable condition.Conclusions:Lenalidomide can significantly improve transfusion dependence in patients with MDS/MPN-RS-T,and ASXL1 mutation and high-risk cytogenetic abnormality may be associated with AML transformation.

关 键 词：骨髓增生异常-骨髓增殖性疾病 贫血 铁粒幼细胞性 血小板增多 

分 类 号：R551.3[医药卫生—血液循环系统疾病] R733.3[医药卫生—内科学]