摘要
慢性中性粒细胞白血病(CNL)是一种罕见但可致命的慢性骨髓增殖性肿瘤。其临床特征主要包括以中性粒细胞为主的白细胞升高超过25×109/L,且不伴有病态造血或其他骨髓增殖性肿瘤及生理性中性粒细胞升高。CSF3R T618I突变是CSF3R的激活突变。近期的研究揭示了该突变在CNL发病中的重要作用。目前,CSF3R突变已经被纳入CNL诊断标准。其他突变包括SETBP1及ASXL1,也在疾病发病及进展中发挥着重要作用,且对药物治疗的反应有关。个体化治疗时代,CNL的目标是基于疾病临床特征及分子生物学特征的诊断和治疗。
Chronic neutrophilic leukemia （CNL） is a rare but potentially life-threatening chronic myeloproliferative neoplasm manifested by leukocytosis exceeding 25×10^9/L, predominantly neutrophils, without increased blast percentage, dysplasia or evidence of other myeloproliferative disorders or physiological neutrophilia. CSF3R T6181, a somatic activating mutation of the CSF3R gene, plays a significant role in the pathogenesis of CNL and has been recognized as a diagnostic marker for CNL recently. Concurrent mutations of SETBP1 and ASXL1 also appear to be associated with prognosis and response to treatment. In the era of individualized treatment, the goal of CNL management should be based on both clinical features and molecular and biological profile.
出处
《中国实用内科杂志》
CAS
CSCD
北大核心
2018年第2期123-126,共4页
Chinese Journal of Practical Internal Medicine
