Targeted Sequencing Of 647 Patients With Myeloid Malignancies, Marrow Failures And Cytopenia: A Prospective 'Real Life' Analysis

The diagnosis of myelodysplastic syndrome, especially in the absence of ring sideroblasts, excess blasts or cytogenetic abnormalities, is challenging in daily clinical practise and is biased by poor inter-observer concordance. The array of genetic abnormalities identified in MDS by targeted sequencing might aid in diagnosis, especially in cases with mild cytopenias and subtle dysplastic features. However, the presence of such somatic mutations in 'normal' elderly population leading to clonal haematopoiesis of indeterminate potential (CHIP) further confounds use of somatic mutations to diagnose MDS.