State of the Art Update: Molecular Genetics of MPN

The molecular basis of myeloproliferative neoplasms (MPN) has been defined in almost all cases. In greater than 95% of cases of MPN the mutations that drive the development of an MPN phenotype are accounted for by somatic mutations in three genes: JAK2, CALR or MPL, and notably these mutations occur in a mutually exclusive manner1. Mutations in JAK2 and MPL occur as gain-of-function point mutations (i.e. JAK2V617F and MPLW515L/K respectively), while the mutations in CALR occur as +1 base pair frameshifts in the last coding exon of CALR, which result in the generation of a novel C-terminus1,2.
Source: Clinical Lymphoma, Myeloma and Leukemia - Category: Hematology Authors: Source Type: research