意义未明特发性血细胞减少症五例临床分析

Clinical analysis of five idiopathic cytopenia of undetermined significance cases

目的探讨意义未明特发性血细胞减少症（ICUS）的临床特点及精准诊断。方法选取5例ICUS患者，对其临床资料、病理学特征、染色体核型及基因突变等进行分析。结果5例ICUS患者初次就诊时均发现持续性全血细胞减少，骨髓细胞形态上无明显病态造血，可排除骨髓增生异常综合征或再生障碍性贫血等引起血细胞减少的血液系统及非血液系统疾病。5例患者中，4例染色体核型正常，1例患者携带费城染色体，且融合基因BCR—ABL阳性。基因测序发现，1例患者携带TET2基因突变（c．2604T〉G）。结论部分ICUS患者可能存在克隆性造血现象，而进展为意义未明克隆性血细胞减少（CCUS）。染色体核型分析及基因测序等分析对ICUS及CCUS的精准诊断具有重要意义。

Objective To explore the clinical characteristics and precision diagnosis of the patients with idiopathic cytopenia of undetermined significance （ ICUS ）. Methods The clinical data, pathology characteristics,chromosome karyotype and gene mutations were analyzed in five ICUS patients. Results The morphological results of blood and bone marrow cells derived from the 5 ICUS patients at initial diagnosis did not exhibit obvious dysplasia which excluded the diagnosis of hematological diseases such as myelodysplastic syndrome, aplastic anemia as well as other non-hematological diseases which can cause cytopenia. Among these 5 patients,4 patients carried normal cba-omosome karyotype,while 1 patient carried Philadelphia chromosome that encoded fusion gene BCR-ABL. Through gene sequencing analysis, a gene mutation TET2 （ c. 2604T 〉 G） was found in 1 patient. Conclusion A part of ICUS patients possibly have clonal hematopoiesis which progress to clonal cytopenia of undetermined significance （CCUS）. Chromosome karyotype and gene mutational analysis are important for the precision diagnosis of ICUS and CCUS.