Molecular characterisation of triple negative essential thrombocythaemia patients by platelet analysis and targeted sequencing.

Abstract

Essential thrombocythaemia (ET) is a myeloproliferative neoplasm(MPN) characterised by megakaryocyte hyperplasia and thrombo-cytosis. From the genetic perspective, ET patients harbourmutations inJAK2(50–60%),CALR(15–30%) andMPL(1–5%) genes.This study was supported in part by grants from ISCIII and Spanish Ministry of Health, PI13/00557, PI13/00393, RD12/0036/0010, PT13/0010/0005, 2014SGR567 and the Xarxa de Banc de Tumors de Catalunya