Integrated genomic analysis illustrates the central role of JAK-STAT pathway activation in myeloproliferative neoplasm pathogenesis

Abstract

Key Points A gene expression profile consistent with activated JAK2 signaling is seen in all MPN patients, including in patients with CALR mutations. Transcriptional profiling discriminates subsets of MPNs based on JAK2V617F allele burden and on the presence of CALR and TET2 mutations.