Single-cell multiomics analysis reveals distinct mutational landscapes in myelodysplastic syndromes, highlighting mutated pathways associated with clinical response to hypomethylating therapy.
Mutational landscape of patients with the studied MDS. A, Summary of the study workflow. B, Oncoprint indicating the mutations present in the patient cohort, at diagnosis and after AZA treatment, colored by coding impact. Multi-hit means presence of more than one mutation of same coding impact (missense, nonsense, or frameshift) in the same gene. C, UpSet plot illustrating the exclusive intersection of mutated pathways at diagnosis in patients with MDS. The patients are colored according to the response status (green, responders; magenta, nonresponders).
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Campillo‐Marcos et al. (2024) studied this question.
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