Next-generation sequencing data on myeloproliferative neoplasms

Claire Harrison, MD of the Guy’s and St. Thomas Hospital in London, UK, talks about the molecular architecture of myeloproliferative neoplasms (MPN), it’s implication for diagnosis and response to treatment and data supporting this presented at the American Society of Hematology (ASH) 2015 Annual Meeting, in Orlando, FL. Dr Harrison discusses the database created by the Florence group (Alessandro Vannucchi) and Mayo Clinic (Ayalew Tefferi), which has shown that a significant proportion of polycythemia vera and essential thrombocythemia (ET) have additional mutations that might impact on prognosis. Two groups (Andreas Reiter & Animesh Pardanani, and the Mayo Clinic group) also presented next-generation sequencing data on systemic mastocytosis and AHNMD have a worse prognosis if they have mutations affecting the epigenetic machinery and the spliceosome (e.g. ASX1 mutations). Dr Harrison also discusses next-generation sequencing data on myelofribrosis that shows that patients who have 1 or more of a group of mutations, in particular ASXL1, EZH2, IDH1 and 2, SRSF2, appear to have a worse prognosis in terms of overall survival and risk of leukemia transformation.