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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.

DOI:10.3390/cancers17020227
PMID:39858009
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11763460/
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
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d2b3/11763460/efde027f4456/cancers-17-00227-g001a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d2b3/11763460/efde027f4456/cancers-17-00227-g001a.jpg

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Cancers (Basel). 2025 Jan 12;17(2):227. doi: 10.3390/cancers17020227.
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本文引用的文献

1
Distinct clinical profiles and patient outcomes in aCML and CNL.非典型慢性髓性白血病和慢性中性粒细胞白血病的不同临床特征及患者预后。
Ann Hematol. 2024 Dec;103(12):5325-5332. doi: 10.1007/s00277-024-06032-z. Epub 2024 Oct 8.
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Rare case of simultaneous occurrence of chronic neutrophil leukemia and T lymphoblastic lymphoma: case report and literature review.慢性中性粒细胞白血病和 T 淋巴母细胞淋巴瘤同时发生的罕见病例:病例报告及文献复习。
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Hereditary chronic neutrophilic leukemia in a four-generation family without transformation to acute leukemia.
四代家族遗传性慢性中性粒细胞白血病,无向急性白血病转化。
Am J Hematol. 2024 Oct;99(10):1877-1886. doi: 10.1002/ajh.27420. Epub 2024 Jun 27.
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CSF3R mutated myeloid neoplasms: Beyond chronic neutrophilic leukemia.CSF3R 突变型髓系肿瘤:超越慢性中性粒细胞白血病。
Hum Pathol. 2024 Jul;149:66-74. doi: 10.1016/j.humpath.2024.06.008. Epub 2024 Jun 13.
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Advances in Molecular Understanding of Polycythemia Vera, Essential Thrombocythemia, and Primary Myelofibrosis: Towards Precision Medicine.真性红细胞增多症、原发性血小板增多症和原发性骨髓纤维化的分子认识进展:迈向精准医学
Cancers (Basel). 2024 Apr 26;16(9):1679. doi: 10.3390/cancers16091679.
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Chronic neutrophilic leukemia and atypical chronic myeloid leukemia: 2024 update on diagnosis, genetics, risk stratification, and management.慢性中性粒细胞白血病和不典型慢性髓性白血病:2024 年诊断、遗传学、风险分层和治疗更新。
Am J Hematol. 2024 Jul;99(7):1360-1387. doi: 10.1002/ajh.27321. Epub 2024 Apr 21.
7
Analysis of CSF3R mutations in atypical chronic myeloid leukemia and other myeloid malignancies.分析非典型慢性髓性白血病和其他髓系恶性肿瘤中的 CSF3R 突变。
Ann Diagn Pathol. 2024 Aug;71:152317. doi: 10.1016/j.anndiagpath.2024.152317. Epub 2024 Apr 18.
8
ASXL1 mutation is a novel risk factor for bleeding in Philadelphia-negative myeloproliferative neoplasms.ASXL1突变是费城阴性骨髓增殖性肿瘤出血的一个新的危险因素。
Leukemia. 2024 Jan;38(1):210-214. doi: 10.1038/s41375-023-02069-7. Epub 2023 Nov 3.
9
Antineoplastic effects of pharmacological inhibitors of aurora kinases in CSF3R-driven cells.在 CSF3R 驱动的细胞中,极光激酶的药理学抑制剂的抗肿瘤作用。
Blood Cells Mol Dis. 2024 Jan;104:102799. doi: 10.1016/j.bcmd.2023.102799. Epub 2023 Oct 9.
10
Blast phase myeloproliferative neoplasm: contemporary review and 2024 treatment algorithm.急变期骨髓增殖性肿瘤:当代综述与 2024 年治疗算法。
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