伴环形铁粒幼细胞和血小板增多的骨髓增生异常综合征/骨髓增殖性肿瘤2例并文献复习  

Myelodysplastic syndrome/myeloproliferative neoplasm with ring sideroblasts and thrombocytosis:report of 2 cases and review of literature

作　　者：宫文玉 徐士云 金其川 凌春 鲍文强 张启国[2] Gong Wenyu;Xu Shiyun;Jin Qichuan;Ling Chun;Bao Wenqiang;Zhang Qiguo(Department of Hematology,Chiizhou Hospital,the Affiliated Hospital of Anhui Medical University,the First People's Hospital of Chuzhou,Chuzhou 239000,China;Department of Hematology,Nanjing Drum Tower Hospital,the Affiliated Hospital of Nanjing University Medical School,Nanjing 210008,China)

机构地区：[1]安徽医科大学附属滁州医院,滁州市第一人民医院血液科,滁州239000 [2]南京大学医学院附属鼓楼医院血液科,南京210008

出　　处：《白血病．淋巴瘤》2022年第2期103-106,共4页Journal of Leukemia & Lymphoma

摘　　要：目的加强对伴环形铁粒幼细胞和血小板增多的骨髓增生异常综合征/骨髓增殖性肿瘤(MDS/MPN-RS-T)的认识,提高精准诊断和个体化治疗水平。方法回顾性分析2017年10月和2019年11月于滁州市第一人民医院诊治的2例MDS/MPN-RS-T患者的临床资料和二代测序分子克隆结果,并复习相关文献。结果例1为76岁女性,突变负荷从高到低依次为DNMT3A、JAK2 V617F、SF3B1,羟基脲治疗后贫血好转,血小板计数改善,临床过程呈惰性。例2为66岁男性,病初诊断为原发性血小板增多症,羟基脲治疗后贫血加重,完善检查后诊断为MDS/MPN-RS-T,突变负荷从高到低依次为SF3B1、ASXL1、JAK2 V617F、SRSF2,疾病进展后全血细胞减少,JAK2 V617F突变最后转阴;促红细胞生成素、来那度胺治疗无效,给予小剂量地西他滨(10 mg/d,3~5 d,1次/月)治疗后造血改善。结论JAK2 V617F、SF3B1共突变对MDS/MPN-RS-T的诊断有提示作用;动态二代测序有助于阐明临床异质性的分子学本质。小剂量地西他滨对MDS/MPN-RS-T治疗有一定效果。Objective To deepen the understanding of myelodysplastic syndrome/myeloproliferative neoplasm with ring sideroblasts and thrombocytosis(MDS/MPN-RS-T),and to improve the levels of precise diagnosis and individualized treatment.Methods The clinical data and next-generation sequencing molecular cloning results of two MDS/MPN-RS-T patients who were admitted to the First People's Hospital of Chuzhou in October 2017 and November 2019 were retrospectively analyzed,and the related literature was reviewed.Results Case 1 was a 76-year-old female.The mutation loads from high to low were DNMT3A,JAK2 V617F and SF3B1.After administration of hydroxyurea,this patient acquired amelioration in anemia,and the platelet count improved.The clinical course was indolent.Case 2 was a 66-year-old male,who was initially diagnosed with essential thrombocythemia but failed to acquire response after hydroxyurea treatment.MDS/MP-RS-T was diagnosed after comprehensive examination.The mutation loads from high to low were SF3B1,ASXL1,JAK2 V617F and SRSF2.Pancytopenia occurred after disease progression,and the JAK2 V617F mutation finally turned negative.Administration of erythropoietin and lenalidomide failed to improve the condition,but low-dose decitabine treatment(10 mg/d,3-5 d,once a month)improved the hematopoiesis.Conclusions The co-mutation of JAK2 V617F and SF3B1 has a suggestive effect on the diagnosis of MDS/MPN-RS-T,and dynamic next-generation sequencing is helpful to elucidate the molecular nature of clinical heterogeneity of the disease.Low-dose decitabine has a certain curative effect on MDS/MPN-RS-T.

关 键 词：骨髓增生异常综合征 骨髓增殖性肿瘤 环形铁粒幼细胞 血小板增多 骨髓检查 

分 类 号：R733.3[医药卫生—肿瘤] R551.3[医药卫生—临床医学]