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The JAK2 V617F mutation is identified in 95% of patients with polycythemia vera (PV) but is present in less than half of patients with myelofibrosis (MF) or essential thrombocythemia (ET). A mutation in the thrombopoietin receptor gene (MPL) is observed in even fewer MF or ET patients (5%–10%). To understand the pathogenesis of JAK2 nonmutated MF and ET, two groups of investigators used whole-exome sequencing to identify somatic mutations in the malignant cells.
Each group verified the presence of recurring acquired somatic insertion or deletion mutations in CALR, a highly conserved gene that encodes calreticulin and modulates glycoprotein folding and calcium homeostasis. The results were as follows:
In patients without JAK2 or MPL mutation, …