EHA 2022 | The role of PIEZ01 variants in patients with MDS
Enrico Attardi, MD, University of Rome Tor Vergata, Rome, Italy, talks on the role of the PIEZ01 mutation in determining early onset anemia in patients with myelodysplastic syndromes (MDS). It is of interest to verify whether patients below 60 years of age carry germline predispositions to optimize treatment decisions. Dr Attardi discusses a study that investigated germline predispositions in patients with MDS who were anemic using whole exome sequencing (WES) on bone marrow DNA (BM-DNA) or peripheral blood DNA (PB-DNA), as well as WES of DNA extracted from saliva (S-DNA) samples. The study found a pathogenic role for variants in PIEZO1 and KCNN4. This interview took place at the European Hematology Association (EHA) Congress 2022 held in Vienna, Austria.
