The phenomenon of clonal hematopoiesis: etiology, classification and its prognostic role

The phenomenon of clonal hematopoiesis (CH) has been the subject of intensive research since 2014, facilitated by the development of high‑throughput sequencing technology. with age, the prevalence of CH increases, which is associated with an increased risk of hematological and cardiovascular diseases, as well as with overall mortality. The occurrence of somatic mutations in hematopoietic stem cells is the primary mechanism of CH, as a result of which the balance between cell division and differentiation is disrupted, which leads to the expansion of cell clones with specific genetic changes. The article reviews the concept of CH and its various types, including clonal hematopoiesis of indeterminate and tumorigenic potential, as well as associated conditions such as idiopathic cytopenia of undetermined significance, clonal cytopenia of undetermined significance, and idiopathic dysplasia of undetermined significance. Clonal hematopoiesis is defined by the presence of somatic mutations in myeloid‑related genes (commonly DNMT3A, TET2, and ASXL1) in hematopoietic cells, which can be present in both healthy people and patients with hematological neoplasia. The importance of distinguishing between different CH forms depending on their prognostic significance and the potential risk of transformation into malignant neoplasms is emphasized. Mutations associated with CH may increase the risk of cardiovascular diseases, type 2 diabetes mellitus, chronic obstructive pulmonary disease, venous thrombosis, and myeloid and lymphoid neoplasms. In conclusion, the need to develop formalized diagnostic criteria and predictive models for risk stratification in individuals with various CH forms is emphasized, which can significantly affect diagnostic approaches and the possibility of treating these conditions.