Distribution of mutant clones and CNVs at diagnosis in patients with the studied MDS. A, Proportion of mutant clones over all mutant cells at diagnosis in each patient, colored by clone abundance. Upper bar plot illustrates number of clones at diagnosis and the middle bar indicates the response status (green, responders; magenta, nonresponders). Note that patient #10 is not included because no mutant clones were found using our gene panel. B, Number of mutant clones at diagnosis (left); Shannon diversity index computed among mutant clones at diagnosis (middle); predominant mutant clone size with respect to other mutant clones at diagnosis (right). R, responders; NR, nonresponders. C, Percentage of patients with mutations in each gene in the predominant clone at diagnosis (left); Percentage of patients with mutations in each gene in the first clone at diagnosis (right). D, Proportion of responders and nonresponder patients with CHIP mutations (TET2, DNMT3A, and ASXL1) in first (left) and predominant (right) clones at diagnosis. E, Oncoprint of CNVs in the patient cohort at diagnosis. F, Median per amplicon ploidy of the mutant clones for patients with CNVs (patients #2, #3, #5, #8, #9, and #13).
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Campillo‐Marcos et al. (2024) studied this question.
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