clonal hematopoiesis
Pronunciation: /ˈkloʊnəl ˌhiːmætoʊpaɪˈiːsɪs/
Age-related expansion of blood cell clones carrying somatic mutations, which can confound cancer genomic testing and increase cardiovascular risk.
Full Definition
Clonal hematopoiesis refers to the age-associated phenomenon where hematopoietic stem cells acquire somatic mutations that provide a competitive advantage, leading to clonal expansion of mutated blood cell populations. This condition affects up to 20% of individuals over 70 years and commonly involves mutations in genes like DNMT3A, TET2, and ASXL1. In cancer genomics, clonal hematopoiesis represents a significant confounding factor because these mutations can be detected in tumor tissue samples due to infiltrating immune cells, potentially leading to misinterpretation of sequencing results. Recognition of clonal hematopoiesis patterns is essential for accurate variant interpretation in cancer genomic analysis.
Usage
Usage note: Often abbreviated as CHIP (clonal hematopoiesis of indeterminate potential) in clinical contexts.
In Context
- "The detected DNMT3A mutation was attributed to clonal hematopoiesis rather than a true tumor alteration based on the variant allele frequency pattern." — Genomic analysis report
- "Matched normal sequencing revealed clonal hematopoiesis that could have confounded the tumor genomic interpretation." — Quality control documentation