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意义未明的特发性及克隆性血细胞减少症的临床研究

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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(MDSFISH)、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。
Clinical study of idiopathic and clonal cytopenia of undetermined significance
Objective To investigate the clinical manifestations and related laboratory diagnosis of pa-tients with idiopathic/clonal cytopenias of undetermined significance(ICUS/CCUS),and to evaluate the prog-nosis.Methods A total of 14 ICUS/CCUS patients diagnosed and treated in the Affiliated Huaian No.1 Peo-ple'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,chromo-some 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 symp-tomatic 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 reg-ular bone marrow review and early intervention and diagnosis.

Undetermined significanceIdiopathic cytopeniaClonal cytopeniaAplastic anemiaMyelodysplastic syndrome

邓媛、姜坤、陶善东

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南京医科大学附属淮安第一医院血液科,江苏淮安 223300

意义未明 特发性血细胞减少症 克隆性血细胞减少症 再生障碍性贫血 骨髓增生异常综合征

2024

现代医药卫生
重庆市卫生信息中心

现代医药卫生

影响因子:0.758
ISSN:1009-5519
年,卷(期):2024.40(6)
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