Utilization of Next-Generation Sequencing (NGS) in Unexplained Cytopenia

Next-generation sequencing (NGS) has improved diagnostic accuracy for myeloid neoplasms, but its clinical utility in assessing unexplained cytopenias remains uncertain. This study aimed to develop an evidence-based tool to guide the optimal and cost-effective use of NGS in unexplained cytopenia. In this retrospective study, 524 patients with unexplained cytopenias were evaluated and divided into a clonal group with detected clonal mutations (myelodysplastic syndrome and clonal cytopenia of undetermined significance, n = 212) and a non-clonal group without detected clonal mutations (n = 312).