EVENT DESCRIPTION
Mutation detection in MPN
EVENT CONTENT
Since the seminal discovery of the V617F mutation of tyrosine kinase Jak2 in 2005, several other mutations have been described as specific for MyeloProliferative Neoplasms (MPN) in JAK2 exons 12, 13, 14 (in addition to c1849G>T V617F), 15 and in the exon10 of MPL. In the past 2 years, others rare mutations have been described. Some are associated with MPN (CBL, ASXL1, …), others are involved in disease progression (IDH, TET2). Finally, single nucleotide polymorphisms (SNPs) and the 46/1 “GGCC” haplotype of JAK2, that predispose to acquisition of mutations in the JAK2 gene and to MPN, have been identified.