(WASHINGTON, April 29, 2020) — In a special report published today in the journal Blood, an international working group of experts in myelodysplastic syndromes (MDS) proposes – for the first time – the recognition of a distinct subtype of MDS based on the presence of a nonheritable genetic mutation that causes the disease. The mutation is found in approximately one in every five patients with MDS.
“This study represents an important step forward in the ability to diagnose MDS on the basis of genetic features, and this is paving the way to obtain a diagnosis without the need to analyze bone marrow,” said lead author Luca Malcovati, MD, of the University of Pavia Medical School in Italy. “Patients who carry this genetic variant may benefit from treatment with an approved drug, luspatercept. In addition, other potential new treatments that directly target this genetic mutation are in the early stages of development and may benefit patients in the future.” (Read more)