The Breakthrough of Accurate Molecular Characterization of MDS by NGS Testing of Cell-Free DNA (cfDNA) Isolated from Peripheral Blood

摘要

A recent NGS study in patients with MDS demonstrated that molecular as well as cytogenetic abnormalities in cfDNA from peripheral blood mirror the profile in bone marrow. Such results give further support to a promising option of testing cfDNA to characterize and monitor MDS instead of using invasive bone marrow biopsies. This breakthrough expands the potential of cfDNA studies in hematologic disorders. It also suggests that the routine testing could incorporate cfDNA in the future once validation and standardization procedures are established and large clinical trials are completed.