Knowledge of the molecular background of myelodysplastic syndrome (MDS) has been greatly advanced by developments in techniques such as next-generation sequencing (NGS) and ChIP-sequencing. Professor Torsten Haferlach, MD, PhD, of the Munich Leukaemia laboratory, Munich, Germany, highlights the discovery of several genes in MDS from his recent study using ChIP. Prof. Haferlachs findings bring significant prognostic, diagnostic and therapeutic value. From the 2018 Society of Hematologic Oncology (SOHO) in Houston, TX, Prof. Haferlach reports his finding of the splicing factor 3b subunit 1 (SF3B1) genetic mutation, paving way to a more specific diagnosis of MDS that so far was only based on morphology.
Identifying genetic mutations for diagnosing MDS
