意义未明的特发性及克隆性血细胞减少症的临床研究

Clinical study of idiopathic and clonal cytopenia of undetermined significance

目的探讨意义未明的特发性/克隆性血细胞减少症(ICUS/CCUS)患者的临床表现及相关实验室诊断,评估疾病发展及预后。方法选取2019年1月至2021年2月于该院诊治的14例ICUS/CCUS患者,其中ICUS 7例、CCUS 7例,对其临床表现、骨髓形态及病理、染色体及骨髓增生异常综合征荧光原位杂交检测(MDS FISH)、基因突变进行检测分析。结果7例ICUS患者超过1年随诊,予对症支持治疗为主,1例进展为CCUS;7例CCUS患者中2例进展为MDS伴原始细胞增多亚型-1,1例进展为急性髓系白血病-M5。结论ICUS患者需定期随访,建议定期复查MDS基因突变检测,有进展为CCUS可能;合并有提示预后不良基因突变的CCUS患者需定期复查骨髓,及早干预诊治。

Objective To investigate the clinical manifestations and related laboratory diagnosis of patients with idiopathic/clonal cytopenias of undetermined significance(ICUS/CCUS),and to evaluate the prognosis.Methods A total of 14 ICUS/CCUS patients diagnosed and treated in the Affiliated Huaian No.1 People′s Hospital of Nanjing Medical University from January 2019 to February 2021 were selected,including seven ICUS and seven CCUS.The clinical manifestations,bone marrow morphology and pathology,chromosome and myelodysplastic syndrome fluorescence in situ hybridization(MDS FISH)and gene mutation were analyzed.Results A total of seven ICUS patients were followed up for more than one year and received symptomatic supportive treatment,one case progressed to CCUS.Of the seven CCUS patients,two developed MDS with cytoplasmic subtype-1 and one developed acute myeloid leukemia-M5.Conclusion ICUS patients should be followed up regularly,and it is recommended to regularly review the MDS gene mutation detection,which may progress to CCUS.Patients with CCUS with gene mutations that suggest poor prognosis should have regular bone marrow review and early intervention and diagnosis.