Giulia Petrone, MD, WashU Hematology/Oncology Fellow, study, “Clinical and Therapeutic Implications of Clonal Hematopoisis” was recently published in Annual Review of Genomics and Human Genetics, Volume 25, 2024.
Clonal Hematopoiesis (CH) is a condition in which hematopoietic stem and progenitor cells acquire the same somatic mutations, leading to the expansion of these mutated cells. The prevalence of CH increases with age, affecting 10 to 20% of individuals between 60 and 70 years old. Although CH often presents without symptoms, it has been linked to reduced overall survival and higher risk of developing blood cancers, cardiovascular disease, and other chronic conditions such as diabetes and autoimmune disorders.
The progression from CH to overt disease is complex and not fully understood. However, when CH involves mutations in genes commonly associated with blood cancers, the likelihood of developing low blood counts or hematologic malignancies increases. Additionally, CH may contribute to chronic inflammation and atherosclerosis, which can lead to cardiovascular events.
This review explores the risk factors currently linked to CH, including age and exposure to cytotoxic treatments, and examines the disease outcomes associated with CH, particularly in relation to blood cancers and cardiovascular disease. It also discusses approaches to diagnosing and managing individuals with CH.
The goal of this review is to provide readers with a comprehensive understanding of CH, including its prevalence, risk factors, diagnostic considerations, and clinical implications.