Triple negative, JAK2V617F and CALR mutated essential thrombocythaemia patients share a unique gene expression signature [RNA-seq]

There is a unique signature pattern that is consistent across the essential thrombocythaemia (ET) population regardless of mutation status. ET phenotype may therefore, at least in part and regardless of mutation type, be driven by transcriptional mis-regulation and may propagate downstream via the MAPK, TNF and NFκB pathways with resultant JAK/STAT activation. RNA-Sequencing on a total of 18 patient samples with essential thrombocythemia and 4 healthy controls.