Abstract

Acute myeloid leukaemia in children (pAML) is characterised by frequent relapses and a dearth of somatic DNA alterations. Splicing dysregulation has not been thoroughly researched in pAML, despite seminal findings showing that splicing factor mutations and mis-splicing fuel therapy-resistant leukaemia stem cell (LSC) production in adults. Here, we discuss transcriptome-wide analyses of FACS-purified hematopoietic stem and progenitor cells followed by differential splicing analyses, dual-fluorescence lentiviral splicing reporter assays, single-cell proteogenomics analyses, and the potential of the selective splicing modulator Rebecsinib in pAML.