Blood-cell mutation patterns linked to cancer progression
A yearly rise of at least 7.5% in mutated gene copies’ share best predicted cancer progression among patients with unexplained low counts of certain white blood cells.
HemaSphere
An observational cohort study examined 256 patients with chronic idiopathic neutropenia, an unexplained, persistent shortage of neutrophils, a type of infection-fighting white blood cell. Researchers tracked 104 patients for a median of 32 months. They found groups of blood cells carrying shared mutations in 12.5% of patients.
An age-related mutation pattern showed little change in group size and was associated with a stable disease course. A high-risk pattern showed greater expansion and was linked to a high risk of progression to cancer. Cancer progression was also associated with multiple mutations and a baseline mutation share above 10%. This share measured the proportion of gene copies carrying a mutation. A yearly increase of at least 7.5% best predicted progression. Blood-cell measurements showed no clinically significant changes over time.
Why it matters
The study addressed how to distinguish age-related blood-cell mutation patterns from those that may signal cancer progression. The authors supported repeated DNA sequencing to guide monitoring according to patients’ risk.
Caveats
This observational study identified associations, not proof that the mutations caused cancer. Longitudinal results came from 104 of the 256 patients.
- Chronic idiopathic neutropenia
- Multiple mutations
- Malignancy
- Annual variant allele frequency increase
- Baseline variant allele frequency
- Humans
The paper
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Anna Maria Perantonaki, Erasmia Boutakoglou, Stavros Argyrios Papadakis, Anna Gallì, Stamatia Laidou, Charalampos G. Pontikoglou, Anastasia Chatzidimitriou, Luca Malcovati,University Hospital of Heraklion
HemaSphere · 6 Oct 2026
