Clonal Hematopoiesis of Indeterminate Potential (CHIP)

see also:

• neoplasia / cancer / tumours
• polycythaemia rubra vera
• essential thrombocytosis
• POT1 mutation mediated long telomere syndrome and neoplasia risk

• Clonal Hematopoiesis of Indeterminate Potential (CHIP) is regarded as a pre-malignant state of haematopoietic cells

• one or more somatic mutations are detected in genes linked to myeloid malignancies (commonly DNMT3A, TET2, ASXL1, or JAK2)
• mutation is present in at least 2% of blood cells (Variant Allele Frequency or VAF ≥ 2%)
• no signs of a current blood cancer, such as unexplained low blood counts (cytopenias), thrombocytosis or polycythaemia

• affects 10–20% of people over age 70 and more than 30% of those over age 80
• higher prevalence in those with POT1 mutation

• increases the risk of developing leukemia or other blood cancers by about 0.5–1.0% per year
• it is a major risk factor for heart attacks and strokes