Abstract：
Chronic neutrophilic leukemia (CNL) is primarily diagnosed by excluding myelodysplastic syndromes (MDS). We report the case of a patient who developed secondary CNL 3 years after hypoplastic MDS. We used droplet digital polymerase chain reaction mutation detection assay to analyze genomic alterations during the progression from MDS to CNL. At the time of MDS diagnosis, U2AF1 Q157P and SETBP1 D868N were dominant and additional mutation of ASXL1 1934_insG was observed. CSF3R T618I and SETBP1 D868N were increasing at the time of CNL diagnosis. We revealed the accumulation of multiple gene mutations during CNL development from MDS. This suggests that CNL was clonally developed from the founding clone of MDS and CSF3R mutation contributes to the development of CNL in the present case. These findings provide insights into the pathology of CNL.
摘要：
慢性中性粒细胞白血病(CNL)主要通过排除骨髓增生异常综合征(MDS)来诊断。我们报告了一例在发育不良MDS3年后发生继发性CNL的患者。我们使用液滴数字聚合酶链反应突变检测测定法来分析从MDS到CNL的进展过程中的基因组改变。在MDS诊断时，U2AF1Q157P和SETBP1D868N是显性的，并且观察到ASXL11934_insG的额外突变。CSF3RT618I和SETBP1D868N在CNL诊断时增加。我们揭示了MDS在CNL发育过程中多个基因突变的积累。这表明CNL是由MDS的起始克隆克隆克隆开发的，CSF3R突变有助于本病例中CNL的发展。这些发现提供了对CNL病理学的见解。
