Welcome everybody. I'm Carmelo Gurneri. I'm a physician scientist from Cleveland Clinic and University of Rome, Torvergata. And at ASH I presented an abstract on DDX41 mutation and the general prognostication in this patient setting. We demonstrated, thanks to an international collaboration across six academic centers with a paramount expertise in DDX41 myeloid neoplasia, that current schemes that we use generally in our outpatient clinic for the disease prognosis are not able to capture the invariant features of this particular myelodysplastic syndrome subset. Indeed, we found that specific genomic constellations that are typical of DDX41 mutation, in particular the presence of truncating mutation, or the acquisition of a second somatic lesion on the contralateral allele of the same gene, are the ones that mostly impact on disease outcome in terms of overall survival and leukemia progression. In particular, we found that transplant is able to abrogate the negative impact on overall survival of the mutation in the 525 position that is particularly frequent in patients with double hit somatic plus germline configuration. This is the first time germline configurations are taken into account in MDS risk scores and I will hope that in the future germline predisposition will be a feature that can be captured in the disease risk scores.
HealthTree • December 22, 2023