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Mutational spectrum and dynamics of clonal hematopoiesis in anemia of older individuals

04 August 2020

Isabelle van Zeventer tells us more about her recent publication 'Mutational spectrum and dynamics of clonal hematopoiesis in anemia of older individuals'.

Why do you do research in this area? What do you find interesting/important about it?

We are trying to understand the meaning of mutations in the blood of older individuals. Upon ageing, blood cells carrying mutations expand and become detectable in (otherwise healthy) individuals, a phenomenon now referred to as clonal hematopoiesis. Although individuals with clonal hematopoiesis are at higher risk of developing hematological disease, the meaning of these mutated clones for (healthy) ageing still remains largely unknown.

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.

You hypothesized that a specific gene pattern in hematopoietic clones underlies age related anemia. But that was not the case, however, you could show that a specific mutational spectra points towards it. Is that correct?