PFA methylomic subtype changes at recurrence and 1q+ and/or 6q- predisposition methylation characteristics. (A) Sankey plot showing changes in PFA methylation subtype between presentation and 1st recurrence. (B) DNA proportion of 1q+ (top panel) and 6q− cases (bottom panel) per subtype at presentation and 1st recurrence. (C) Enrichment (hypergeometric analysis) of methylated CpGs in open sea, shelf, shore (subdivided into north and south shelf and shore) and islands in CpGs hypermethylated in presentation samples predisposed to 1q+ and/or 6q− samples versus not predisposed to 1q+ and/or 6q− (with wildtype 1q and 6q at presentation and recurrence) and (D) CpG hypermethylated in presentation samples not predisposed to 1q/6q changes versus 1q+ and/or 6q− predisposed. (E) Schema depicting hypothetical consequences of differential CpG methylation (Me) patterns in open sea, shelf, shore and islands in presentation samples not predisposed to 1q/6q CNVs versus 1q+ and/or 6q− predisposed samples.
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