克隆造血 (CH) 描述了造血干细胞和祖细胞 (HSPC) 的扩增克隆对血细胞生成的巨大贡献。 CH 的患病率随着年龄的增长而急剧增加。 CH 可能是由单个基因的体细胞突变或较大染色体片段的获得和/或丢失引起的。 CH 是癌前状态； CH 中检测到的体细胞突变是血液系统恶性肿瘤的起始突变，CH 是血癌发生的有力预测因子。此外，CH 与非恶性疾病和总体死亡率增加有关。驱动 HSPC 克隆扩增的体细胞突变可以改变终末分化血细胞的功能，包括释放升高水平的炎症细胞因子。这些细胞因子可能会导致广泛的炎症性疾病，这些疾病的患病率随着年龄的增长而增加。检测外周血中的特定体细胞突变，与血细胞计数参数相结合，可以有力地预测血液恶性肿瘤的发展和总体死亡率。在这篇综述中，我们总结了目前对 CH 疾病分类学和起源的理解。我们概述了可用于风险分层的工具，并讨论了使用 CH 前往血液学诊所就诊的患者的管理策略。版权所有 © 2023 美国血液学会。

Clonal hematopoiesis (CH) describes the outsized contribution of expanded clones of hematopoietic stem and progenitor cells (HSPCs) to blood cell production. The prevalence of CH increases dramatically with age. CH can be caused by somatic mutations in individual genes or by gains and or losses of larger chromosomal segments. CH is a premalignant state; the somatic mutations detected in CH are the initiating mutations for hematologic malignancies, and CH is a strong predictor for the development of blood cancers. Moreover, CH is associated with non-malignant disorders and increased overall mortality. The somatic mutations that drive clonal expansion of HSPCs can alter the function of terminally differentiated blood cells, including release of elevated levels of inflammatory cytokines. These cytokines may then contribute to a broad range of inflammatory disorders that increase in prevalence with age. Detection of specific somatic mutations in the peripheral blood, in coordination with blood count parameters, can powerfully predict the development of hematologic malignancies and overall mortality. In this review we summarize the current understanding of CH nosology and origins. We provide an overview of available tools for risk stratification and discuss management strategies for patients presenting to hematology clinics with CH.Copyright © 2023 American Society of Hematology.