Exploring the genomic and epigenomic landscape of acute myeloid leukaemia with nanopore sequencing

Abstract

We report the first study that uses high-coverage whole-genome nanopore-sequencing to simultaneously analyse genomic and epigenomic alterations in cancer, and applied it to the analyses of clonal genomic/epigenomic evolution and mechanisms of drug-resistance in samples of acute myeloid leukaemias (AMLs) at diagnosis and relapse, after chemotherapy. The results confirm that intratumoral epigenetic heterogeneity is a common trait of relapsing/chemoresistant AMLs, which is distinguished from the genetic heterogeneity. The research further demonstrates that the relapse phenotype is most frequently supported by the selection of a few abnormally-methylated transcription factors that induce massive transcriptional reprogramming and contribute to both clonal evolution and drug resistance.

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