Figure 1.
MDS-associated variants in patients newly diagnosed with MM. (A) Study design. (B) Frequency of mutations identified in a total of 95 cell types/samples from 67 patients: 41 without MDS-PA in whom CD34+ HPCs were selected, and 26 with MDS-PA in whom CD34+ HPCs and respective lineages displaying MDS-PA were isolated. Mutations were broken down according to the type of variant. (C) Frequency of detectable mutations in patients with or without MDS-PA. (D) Patients with mutations present in both CD34+ HPCs and mature dysplastic cells (#746, #810). (E) Median variant allele frequency (VAF) in patients with or without MDS-PA. (F) Mutations detected by single-cell DNA sequencing in CD34+ HPCs and/or dysplastic myeloid lineages from 4 patients with MDS-PA. *P ≤ .05. COSMIC, Catalogue Of Somatic Mutations In Cancer; MAF, mutant allele frequency; mut., mutated; SNV, single nucleotide variant.