The spectrum of somatic mutations in high‐risk acute myeloid leukaemia with ‐7/del(7q)

Summary ‐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.