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Review

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

Department of Laboratory Medicine and Pathology, University of Minnesota, Minneapolis, MN 55455, USA
*
Author to whom correspondence should be addressed.
Cancers 2025, 17(2), 227; https://doi.org/10.3390/cancers17020227
Submission received: 15 November 2024 / Revised: 3 January 2025 / Accepted: 7 January 2025 / Published: 12 January 2025

Simple Summary

Myeloproliferative neoplasms (MPNs) represent a subset of blood cancers, a member of which is chronic neutrophilic leukemia (CNL). This entity is very rare in comparison to the more common MPNs. The increased usage of next-generation sequencing (NGS) has increased our diagnostic and prognostic ability regarding this entity. There is no specified treatment approach for CNL; however, there are clinical trials that show promising results and experimental drugs that are being investigated to reach a unified treatment approach. This review aims to comprehensively review this rare entity in terms of epidemiology, diagnosis, pathogenesis, and treatment.

Abstract

CNL is a rare subtype of MPNs characterized by persistent neutrophilia, bone marrow hypercellularity, and specific genetic mutations, particularly in the CSF3R 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.
Keywords: chronic neutrophilic leukemia; myeloproliferative neoplasms; CSF3R; T618I; molecular pathogenesis; targeted therapy chronic neutrophilic leukemia; myeloproliferative neoplasms; CSF3R; T618I; molecular pathogenesis; targeted therapy

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MDPI and ACS Style

Elbaz Younes, I.; Mroz, P.; Tashakori, M.; Hamed, A.; Sen, S. Chronic Neutrophilic Leukemia: Advances in Diagnosis, Genetic Insights, and Management Strategies. Cancers 2025, 17, 227. https://doi.org/10.3390/cancers17020227

AMA Style

Elbaz Younes I, Mroz P, Tashakori M, Hamed A, Sen S. Chronic Neutrophilic Leukemia: Advances in Diagnosis, Genetic Insights, and Management Strategies. Cancers. 2025; 17(2):227. https://doi.org/10.3390/cancers17020227

Chicago/Turabian Style

Elbaz Younes, Ismail, Pawel Mroz, Mehrnoosh Tashakori, Amira Hamed, and Siddhartha Sen. 2025. "Chronic Neutrophilic Leukemia: Advances in Diagnosis, Genetic Insights, and Management Strategies" Cancers 17, no. 2: 227. https://doi.org/10.3390/cancers17020227

APA Style

Elbaz Younes, I., Mroz, P., Tashakori, M., Hamed, A., & Sen, S. (2025). Chronic Neutrophilic Leukemia: Advances in Diagnosis, Genetic Insights, and Management Strategies. Cancers, 17(2), 227. https://doi.org/10.3390/cancers17020227

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