The spectrum of somatic mutations in high-risk acute myeloid leukaemia with -7/del(7q).
-7/del(7q) occurs in half of myeloid malignancies with adverse-risk cytogenetic features and is associated with poor survival. We identified the spectrum of mutations that co-occur with -7/del(7q) in 40 patients with de novo or therapy-related myeloid neoplasms. -7/del(7q) leukaemias have a distinct mutational profile characterized by low frequencies of alterations in genes encoding transcription factors, cohesin and DNA-methylation-related proteins. In contrast, RAS pathway activating mutations occurred in 50% of cases, a significantly higher frequency than other acute myeloid leukaemias and higher than previously reported. Our data provide guidance for which pathways may be most relevant in the treatment of adverse-risk myeloid leukaemia.
Research Papers
- Profiling Reactive Metabolites via Chemical Trapping and Targeted Mass Spectrometry
- Does the brain listen to the gut?
- (Meta)genomic insights into the pathogenome of Cellulosimicrobium cellulans
- A robust adaptive denoising framework for real-time artifact removal in scalp EEG measurements
- Imputing Gene Expression in Uncollected Tissues Within and Beyond GTEx
- Small Rad51 and Dmc1 Complexes Often Co-occupy Both Ends of a Meiotic DNA Double Strand Break
- Controlling the Cyanobacterial Clock by Synthetically Rewiring Metabolism
- Choosing experiments to accelerate collective discovery
- The transcriptional landscape of age in human peripheral blood
- Digital signaling decouples activation probability and population heterogeneity
