慢性嗜中性粒细胞白血病(chronic neutrophilic leukemia,CNL)是一种少见的骨髓增殖性肿瘤(MPN),以往确诊CNL主要依赖于临床表现和形态学,同时排除其他可以引起中性粒细胞增多的因素或疾病。对于临床疑似CNL患者,根据2008年WHO关于CNL的诊断标准,仅有51%的确诊率。随着二代测序技术的广泛开展,逐渐发现与CNL密切相关的基因突变,从而为诊断和治疗提供新的靶点。 Chronic neutrophilic leukemia (CNL) is a rare myeloproliferative neoplasm (MPN). The previous diagnosis of CNL mainly depended on clinical manifestations and morphological features, and at the same time excluded other causes of neutrophilia Factor or disease. For clinically suspected CNL patients, according to the 2008 WHO diagnostic criteria for CNL, only 51% of the diagnosis rate. With the extensive development of the second-generation sequencing technologies, mutations in genes closely related to CNL are gradually discovered, thereby providing new targets for diagnosis and treatment.