克隆性造血（CH）是指造血干细胞和祖细胞体内变异扩增的老年相关现象，不定潜能的克隆性造血（CHIP）在变异等位基因频率≥2％的条件下操作定义为病理性变异。CH与多种造血病（包括未确定意义的克隆性细胞减少），体液性肿瘤（主要为髓系但也涉及淋巴系），细胞增多（包括单核细胞增多）以及非造血条件（如动脉粥样硬化性心血管和脑血管疾病、缺血性充血性心力衰竭、静脉血栓栓塞症、2型糖尿病、慢性阻塞性肺病、骨质疏松症、痛风）有关联，并且在阿尔茨海默病中具有潜在的保护作用。 目前对CH检测的前瞻性数据有限，但由于体细胞和生殖细胞NGS测试的广泛应用，CH检测变得越来越普遍。此外，数据表明治疗相关的髓系肿瘤（tMN）在许多情况下是由于先前检测到CH克隆导致的，这导致了多个机构建立了CH诊所。在我们的机构中，我们目前建议进行CH测试的个体包括持续> 4个月的未明原因的细胞减少、治疗前的恶性肿瘤、自体造血干细胞移植和嵌合抗原受体T细胞（CAR-T）治疗前的筛查，并评估潜在的生殖细胞嵌合变异是否真正代表CH。本文受版权保护。版权所有，翻译仅供参考。

Clonal hematopoiesis (CH) refers to age-associated expansion of somatic variants in hematopoietic stem and progenitor cells (HSPC).CH of indeterminate potential (CHIP) is operationally defined as pathogenic variants in HSPCs at a variant allele frequency ≥ 2%.CH is associated with increased occurrence of several hematological conditions such as cytopenias (also called clonal cytopenia of undetermined significance), hematological (predominantly myeloid but also lymphoid) neoplasms, cytosis (including monocytosis), and non-hematological conditions such as atherosclerotic cardiovascular and cerebrovascular disease, ischemic congestive heart failure, venous thromboembolism, type 2 diabetes mellitus, chronic obstructive pulmonary disease, osteoporosis, gout, with a potential protective effect in Alzheimer's disease (AD).As of now, there is limited prospective data for CH testing; however, CH detection is becoming increasingly prevalent due to ubiquitous use of somatic and germline NGS testing. This in addition to data suggesting that therapy related myeloid neoplasm (tMN) in many cases is preceded by the detection of CH clones, has led to the establishment of CH clinics at several institutions. At our institution, on a research basis, we currently recommend testing for CH for individuals with persistent (>4 months) unexplained cytopenias, in patients with malignancies prior to adjuvant cytotoxic chemotherapy and/or radiation or radionuclide therapy, screening prior to autologous hematopoietic stem cell transplantation and chimeric antigen receptor T cell (CAR-T) therapy and to assess as to whether or not, potential germline mosaic variants actually represent CH. This article is protected by copyright. All rights reserved.This article is protected by copyright. All rights reserved.