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慢性中性粒细胞白血病:诊断、遗传学见解及管理策略的进展

Chronic Neutrophilic Leukemia: Advances in Diagnosis, Genetic Insights, and Management Strategies.

作者信息

Elbaz Younes Ismail, Mroz Pawel, Tashakori Mehrnoosh, Hamed Amira, Sen Siddhartha

机构信息

Department of Laboratory Medicine and Pathology, University of Minnesota, Minneapolis, MN 55455, USA.

出版信息

Cancers (Basel). 2025 Jan 12;17(2):227. doi: 10.3390/cancers17020227.

Abstract

CNL is a rare subtype of MPNs characterized by persistent neutrophilia, bone marrow hypercellularity, and specific genetic mutations, particularly in the gene. 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.

摘要

慢性中性粒细胞白血病(CNL)是骨髓增殖性肿瘤(MPN)的一种罕见亚型,其特征为持续性中性粒细胞增多、骨髓细胞增多以及特定的基因突变,尤其是该基因的突变。分子诊断技术的进步极大地增进了我们对CNL的理解,将其与其他骨髓增殖性疾病区分开来并完善了诊断标准。本综述提供了CNL的最新概述,重点关注基因谱分析的突破,包括具有潜在预后价值的新突变及其对靶向治疗的意义。我们讨论了当前的管理策略,强调了JAK抑制剂、异基因干细胞移植以及不断发展的研究性治疗的作用。还探讨了早期诊断、治疗耐药性方面的挑战以及未来的研究方向,强调了采用个性化医疗方法改善CNL患者预后的必要性。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d2b3/11763460/efde027f4456/cancers-17-00227-g001a.jpg

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