EVENT DESCRIPTION
Mutation detection in MPN
EVENT CONTENT
Since the seminal discovery of the V617F mutation of the receptor associated JAK2 Tyrosine Kinase in 2005, number of other mutations have been described in Myeloproliferative Neoplasms, except CML, involving JAK2 exons 12, 13 14 (in addition to c1849G>T V617F) 15 and cMpl exon10. Since the last 2 years, others rare mutations have been described. Some of them are involved in disease progression like IDH, Tet2, … Others (CBL, ASXL1, …) are associated with some MPN. Finally, predispositions SNP like 46/1 GG/CC have been reported.