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Abstract
The use of blood liquid biopsy is being gradually incorporated into the clinical setting of cancer management. The minimally invasive nature of the usage of cell-free DNA (cfDNA) and its ability to capture the molecular alterations of tumors are great advantages for their clinical applications. However, somatic mosaicism in plasma remains an immense challenge for accurate interpretation of liquid biopsy results. Clonal hematopoiesis (CH) is part of the normal process of aging with the accumulation of somatic mutations and clonal expansion of hematopoietic stem cells. The detection of these non-tumor derived CH-mutations has been repeatedly reported as a source of biological background noise of blood liquid biopsy. Incorrect classification of CH mutations as tumor-derived mutations could lead to inappropriate therapeutic management. CH has also been associated with an increased risk of developing cardiovascular disease and hematological malignancies. Cancer patients, who are CH carriers, are more prone to develop therapy-related myeloid neoplasms after chemotherapy than non-carriers. The detection of CH mutations from plasma cfDNA analysis should be cautiously evaluated for their potential pathological relevance. Although CH mutations are currently considered as “false-positives” in cfDNA analysis, future studies should evaluate their clinical significance in healthy individuals and cancer patients.
Highlights
In recent years, liquid biopsy, which involves genomic profiling of tumors using circulating biomarkers in the bodily fluid, has attracted tremendous interest in the field of cancer diagnosis and management [1]
We have summarized the current understandings of Clonal hematopoiesis (CH) as a form of somatic mosaicism in blood liquid biopsy and the reported clinical importance of CH in both healthy individuals and cancer patients
The current approach to identify CH is by performing paired sequencing of plasma cell-free DNA (cfDNA) and DNA from white blood cells
Summary
Liquid biopsy, which involves genomic profiling of tumors using circulating biomarkers in the bodily fluid, has attracted tremendous interest in the field of cancer diagnosis and management [1]. CH is part of the normal process of aging, and they are highly prevalent in the general population [5,6] These mutations from hematopoietic cells which could disguise as tumor-derived, often present as a source of biological background noise to cfDNA analysis. Healthy individuals who are carriers of CH have shown an increased risk for developing cardiovascular diseases and hematological malignancies while cancer patients with CH mutations are more likely to develop therapy-related myeloid neoplasms several years after the completion of chemotherapy [5,7] These observed pathological associations highlight the potential clinical importance of CH detected from liquid biopsy, CH should not be merely perceived as a source of biological background noise to cfDNA analysis. Since the majority of cfDNA arise from hematopoietic cells, mutations originating from non-malignant hematopoietic cells present as an additional natural biological confounding factor
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