文章：

集落刺激因子3受体突变与变异在血液恶性肿瘤中的研究

Colony-Stimulating Factor 3 Receptor Mutations and Variants in Hematological Malignancies

原文发布日期：20 October 2025

DOI: 10.3390/cancers17203378

类型: Article

开放获取: 是

英文摘要：

Colony-stimulating factor 3 (CSF3), additionally called granulocyte colony-stimulating factor (G-CSF), is the major cytokine regulating neutrophil production and also impacting their function. The actions of this cytokine are mediated through its unique receptor, the colony-stimulating factor 3 receptor (CSF3R). Several classes of pathogenic mutations in theCSF3Rgene have been identified that have distinct biological properties and clinical impacts. This review provides an overview of CSF3R, the various pathogenic CSF3R mutations/variants and their biological effects. It also details the diseases to which they contribute, notably including chronic neutrophilic leukemia (CNL) and other myeloproliferative neoplasms (MPNs), myelodysplastic neoplasms (MDS), combined MDS/MPN disorders such as atypical chronic myeloid leukemia (aCML) and chronic myelomonocytic leukemia (CMML), as well as acute myeloid leukemia (AML) and lymphoid malignancies.

摘要翻译： 

集落刺激因子3（CSF3），亦称粒细胞集落刺激因子（G-CSF），是调控中性粒细胞生成并影响其功能的关键细胞因子。该细胞因子的作用通过其特异性受体——集落刺激因子3受体（CSF3R）介导。目前已发现CSF3R基因中存在多种致病性突变类型，这些突变具有不同的生物学特性与临床影响。本文综述了CSF3R的生物学特征、各类致病性CSF3R突变/变异及其生物学效应，并详细阐述了相关疾病谱系，主要包括慢性中性粒细胞白血病（CNL）与其他骨髓增殖性肿瘤（MPNs）、骨髓增生异常肿瘤（MDS）、MDS/MPN重叠性疾病（如非典型慢性髓系白血病（aCML）和慢性粒-单核细胞白血病（CMML）），以及急性髓系白血病（AML）和淋巴系统恶性肿瘤。

原文链接：

Colony-Stimulating Factor 3 Receptor Mutations and Variants in Hematological Malignancies