Chromosomal and molecular defects observed in association with RS phenotype. (A) Frequency of commonly observed cytogenetic defects in MNs in the RS cohort, subdivided by RS percentage at diagnosis, n = 126. (B) Frequency of mutations in genes commonly mutated in MNs as detected by NGS, subdivided by RS percentage. ASXL1, CALR, CBL, DNMT3A, EZH2, IDH1, IDH2, JAK2, KIT, NRAS, RUNX1, SF3B1, SRSF2, TET2, TP53, and WT1, n = 60; BCOR, BCORL, ETV6, GATA2, GNAS, IKZF1, NOTCH1, PTPN11, SETBP1, STAG2, U2AF1, and ZRSR2, n = 45. For CEBPA (n = 83), FLT3 (n = 103), and NPM1 (n = 93) results of polymerase chain reaction, followed by Sanger sequencing (CEBPA) or Capillary electrophoresis (FLT3 and NPM1) are shown.