Somatic mutations of activating signalling, transcription factor, and tumour suppressor are a precondition for leukaemia transformation in myelodysplastic syndromes.

Abstract excerpt

The transformation biology of secondary acute myeloid leukaemia (AML) from myelodysplastic syndromes (MDSs) is still not fully understood. We performed paired self-controlled sequencing, including targeted, whole exome, and single-cell RNA sequencing, in a cohort of MDS patients to search for AML transformation-related mutations (TRMs). Thirty-nine target genes from paired samples from 72 patients with MDS who...

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