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New insights into genetics of MPN

Presented By
Dr Jyoti Nangalia, University of Cambridge, United Kingdom
ASH 2020
Myeloproliferative neoplasms (MPN) originate from driver mutation acquisitions very early in life, even before birth, with life-long clonal expansion and evolution. Early detection of mutant JAK2, together with determination of clonal expansion rates, could provide opportunities for early interventions, minimising thrombotic risk and targeting the mutant clone in at-risk individuals [1]. The genetic basis of the 3 types of MPN –polycythaemia vera, essential thrombocythaemia, and myelofibrosis– is well characterised [1]. Dr Jyoti Nangalia (University of Cambridge, United Kingdom) told during the late-breaking session: “Over 90% of patients harbour a mutation in JAK2, CALR, or MPL genes; 60% harbour mutations in additional cancer-associated genes, particularly TET2, a chromosomal aberration of 9 (Chr9), ASXL-1, and DNMT3A” [2]. The investigated c...

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