Department of Hematology Oncology, IRCCS San Matteo Hospital Foundation.
Unit of Precision Hematology Oncology, IRCCS San Matteo Hospital Foundation.
Curr Opin Hematol. 2021 Sep 1;28(5):347-355. doi: 10.1097/MOH.0000000000000675.
Clinical and experimental studies have uncovered relevant clinical implications of clonal hematopoiesis. However, the true magnitude of this process, clonal dynamics over time and mechanisms of progression into overt malignancy remain to be largely elucidated. In this article, the consequences of clonal hematopoiesis, its significance in the context of cytopenia, and its implications in the clinical management of patients with myeloid malignancies are reviewed and discussed.
Clonal hematopoiesis has been associated with higher risk of hematologic cancers, as well as of death from cardiovascular causes. Clonal hematopoiesis has been proven clinically relevant in the context of disorders characterized by peripheral blood cytopenia, including aplastic anemia, cytopenia of undetermined significance, as well as unexplained anemia of the elderly.
The available evidence has been proving the utility of somatic mutational analysis in patients with unexplained cytopenia, as well as in those receiving a diagnosis of myeloid neoplasm, enabling more accurate diagnosis, risk assessment, effective therapeutic strategies and residual disease monitoring. The access to a minimally invasive assessment is paving the way for screening programs of clonal hematopoiesis in individuals with absent or mild hematologic phenotype, as well as for therapeutic targeting of preleukemia cells.
临床和实验研究揭示了克隆性造血的相关临床意义。然而,该过程的确切范围、随时间推移的克隆动力学以及进展为显性恶性肿瘤的机制仍在很大程度上尚未阐明。本文综述了克隆性造血的后果、其在血细胞减少症背景下的意义,以及其在骨髓恶性肿瘤患者临床管理中的意义。
克隆性造血与更高的血液系统癌症风险以及心血管原因导致的死亡风险相关。克隆性造血在以下疾病中具有临床相关性,这些疾病的特征是外周血细胞减少症,包括再生障碍性贫血、意义未明的血细胞减少症以及老年不明原因贫血。
现有证据已经证明了体细胞突变分析在不明原因血细胞减少症患者以及骨髓肿瘤诊断患者中的效用,这使得能够进行更准确的诊断、风险评估、有效的治疗策略和残留疾病监测。这种微创评估方法为在无明显或轻度血液学表型的个体中进行克隆性造血筛查计划以及针对白血病前细胞的治疗靶向铺平了道路。