The meaning of mutations in the blood of older individuals

What is your publication about?

In this project, we analyzed clonal hematopoiesis in older individuals with anemia and compared this with controls. The mutations in anemic individuals resembled that of matched controls with respect to the most frequently mutated genes (DNMT3A, TET2, ASXL1), whereas specific mutations, including TP53 and SF3B1, were enriched in anemic individuals.

What did you expect as a result when you started the research project?

Initially, we hypothesized that low-risk clonal myeloid malignancies (eg. myelodysplastic syndromes) might be underlying unexplained anemia in older individuals. The results of our study clearly show that most frequently detected hematopoietic clones, even in the context of anemia, may also be incidental and do not necessarily point towards a diagnosis of neoplastic hematological disease. Specific mutational spectra, in contrast, warrant clinical follow-up.