David Steensma, MD of the Dana-Faber Cancer Institute, Boston, MA discusses the recurrent mutation in patients with myelodysplastic syndromes (MDS). There are over forty mutations and the most common are epigenetic patterning or chromatin remodelling genes such as TET2, DNMT3A, ASXL1, as well as splicing modulators such as SF3B1, SRSF2 and U2AF1 and further, p53 mutations, which are found in 5-10% of patients and are enriched in those who have previously been treated for another malignancy. Other mutations include those that activate tyrosine kinases and mutations that alter cohesions. Dr Steensma also speaks about the difficulty in targeting these mutations, such as transcription factors which are recurrently mutated, and the challenge of how to replace lost function in recurrent mutation.
Recorded at the 2016 Annual Meeting of the British Society of Haematology (BSH) and International Society of Hematology (ISH), held in Glasgow, Scotland.