文章：

慢性中性粒细胞白血病：新的科学进展和新的诊断标准

Chronic neutrophilic leukemia: new science and new diagnostic criteria

原文发布日期：2018-02-13

DOI: 10.1038/s41408-018-0049-8

类型: Review Article

开放获取: 是

英文摘要：

Chronic neutrophilic leukemia (CNL) is a distinct myeloproliferative neoplasm defined by persistent, predominantly mature neutrophil proliferation, marrow granulocyte hyperplasia, and frequent splenomegaly. The seminal discovery of oncogenic driver mutations in CSF3R in the majority of patients with CNL in 2013 generated a new scientific framework for this disease as it deepened our understanding of its molecular pathogenesis, provided a biomarker for diagnosis, and rationalized management using novel targeted therapies. Consequently, in 2016, the World Health Organization (WHO) revised the diagnostic criteria for CNL to reflect such changes in its genomic landscape, now including the presence of disease-defining activating CSF3R mutations as a key diagnostic component of CNL. In this communication, we provide a background on the history of CNL, its clinical and hemopathologic features, and its molecular anatomy, including relevant additional genetic lesions and their significance. We also outline the recently updated WHO diagnostic criteria for CNL. Further, the natural history of the disease is reviewed as well as potential prognostic variables. Finally, we summarize and discuss current treatment options as well as prospective novel therapeutic targets in hopes that they will yield meaningful improvements in patient management and outcomes.

摘要翻译： 

慢性中性粒细胞白血病（CNL）是一种独特的骨髓增殖性肿瘤，其特征为持续性、以成熟中性粒细胞为主的增殖、骨髓粒细胞增生及常见脾肿大。2013年在多数CNL患者中发现CSF3R基因驱动突变的开创性研究，为该疾病建立了新的科学框架：这不仅深化了我们对其分子发病机制的理解，为诊断提供了生物标志物，更通过新型靶向治疗实现了精准医疗。因此，世界卫生组织（WHO）于2016年修订了CNL的诊断标准以反映其基因组特征的更新，将具有诊断意义的激活型CSF3R突变纳入CNL的核心诊断要素。本文阐述了CNL的疾病发展历程、临床与血液病理学特征、分子解剖结构（包括相关附加基因突变及其意义），同时概述了WHO最新修订的CNL诊断标准。此外，本文还回顾了该疾病的自然病程及潜在预后变量，最后总结并讨论了现有治疗方案及前瞻性新治疗靶点，以期为患者管理和临床结局带来实质性改善。

原文链接：

Chronic neutrophilic leukemia: new science and new diagnostic criteria