MDS 2021 | The molecular and clinical classifications of MDS

Michael Rauh, PhD, MD, FRCPC, Queen’s University School of Medicine, Kingston, Canada, outlines the various molecular and clinical classifications of myelodysplastic syndromes (MDS), discussing how they may evolve in the future. The current World Health Organization (WHO) classification of MDS is based on morphological and cytopenia criteria and contains only one cytogenetic aberration primarily identified with FISH, del(5q). It also includes other molecular features which may help diagnosis in specific contexts. Dr Rauh explains that emerging technologies such as whole-genome sequencing (WGS), RNA sequencing (RNA-seq), and targeted sequencing enable more precise identification of DNA and RNA molecular aberrations. Dr Rauh predicts that the WHO classification is likely to change as there is more evidence about recurring mutations in MDS. Dr Rauh argues that the SF3B1 mutation that is currently used to identify a subset of MDS called MDS with ring sideroblasts should be used on its own to diagnose patients with MDS. Similarly, the combination of specific mutations could also be sufficient to achieve a diagnosis. This interview took place at the 16th International Congress on Myelodysplastic Syndromes, held virtually in 2021.