CNL is a rare subtype of MPNs characterized by persistent neutrophilia, bone marrow hypercellularity, and specific genetic mutations, particularly in theCSF3Rgene. Advances in molecular diagnostics have greatly enhanced our understanding of CNL, distinguishing it from other myeloproliferative disorders and refining diagnostic criteria. This review provides an updated overview of CNL, focusing on breakthroughs in genetic profiling, including novel mutations with potential prognostic value and implications for targeted therapy. We discuss current management strategies, emphasizing the role of JAK inhibitors, allogeneic stem cell transplantation, and evolving investigational treatments. Challenges in early diagnosis, therapeutic resistance, and future directions in research are also addressed, underscoring the need for a personalized medicine approach to improve outcomes for patients with CNL.
慢性中性粒细胞白血病(CNL)是一种罕见的骨髓增殖性肿瘤亚型,其特征为持续性中性粒细胞增多、骨髓细胞过度增生以及特定基因突变,尤其是CSF3R基因突变。分子诊断技术的进步极大地增进了我们对CNL的认识,使其与其他骨髓增殖性疾病得以区分,并完善了诊断标准。本文综述了CNL的最新研究进展,重点关注基因谱分析方面的突破,包括具有潜在预后价值的新突变及其对靶向治疗的意义。我们讨论了当前的治疗策略,强调JAK抑制剂、异基因造血干细胞移植以及不断发展的实验性治疗的作用。同时,本文也探讨了早期诊断、治疗耐药性方面的挑战以及未来的研究方向,强调需要采用个体化医疗策略以改善CNL患者的预后。
Chronic Neutrophilic Leukemia: Advances in Diagnosis, Genetic Insights, and Management Strategies