Fig. 2: Comprehensive mutational spectrum of pediatric tMN.
From: The acquisition of molecular drivers in pediatric therapy-related myeloid neoplasms
a Heat map showing the integrated analysis of the pediatric tMN cohort with tumor and non-tumor material (n = 62). b Mutational spectrum of 62 tumor/normal pairs. Yellow and blue bars show the relative contribution of transitions and transversion. Gray bars at bottom indicate number of mutations present for each patient. c Bar graph showing the mean relative contribution of each transition or transversion. C > T transitions are the most common transition or transversion in 60 of 62 patients (96.7%; 95% CI: 88.8–99.6%; p = 2.7 × 10−44 by exact binomial test). Boxes delineate the upper and lower quartiles and the black bar indicates the median. d Mutation signature analysis on 16 cases with available WGS and 3 cases with WES with >30 SNVs. Top: absolute number of SNVs and the contribution of specific COSMIC, thiopurine, and relapse MMR signatures. Middle: relative contribution of specific COSMIC, thiopurine, and relapse MMR signatures. Bottom: select disease relevant mutations present in each patient and the probability that each is induced by the indicated mutational process.
