Figure 2.
Different clonal involvement in dysplastic myelo-erythropoiesis, leukemic transformation, and chemoresistance. (A-B) Patients (Pat.) with undetectable (n = 5) and persistent (n = 5) MRD had phenotypically normal CD34+ HPCs and MRD cells, respectively isolated, whereas cells of the neutrophil, monocyte, and erythroid lineages were isolated in all patients. NGS of genes frequently mutated in myeloid neoplasms was performed in all cell types available in each patient. The VAF of mutated genes was colored in a gradient of gray. If 2 mutations in the same gene were detected, the 2 VAFs are indicated. (C) Representative patient with exome sequencing of dysplastic cell types, blasts at diagnosis, and persistent MRD. The fish plot illustrates different clonal compositions at different stages of disease progression. The blue arrow is pointing to a mutation present in dysplastic cells though absent in blasts at diagnosis and MRD, the olive arrow is pointing to mutations present in dysplastic cells and blasts at diagnosis though not at MRD, and the black arrow points to mutations present in MRD and dysplastic cells though not in blasts at diagnosis. The bar widths indicate the respective VAFs.