The puzzle of myeloproliferative neoplasms: novel disease-specific mutations and new proposals for diagnostic criteria

Polycythemia vera (PV), essential thrombocythemia (ET), and primary myelofibrosis (PMF) are collectively called "Philadelphia-negative classical myeloproliferative neoplasms" (MPNs), and the discovery of the JAK2V617F mutation in 2004 led us to make new progress in the diagnostic approach and therapeutic strategy for MPNs. Thereafter, other clonal markers, such as mutations of the MPL or CALR genes, were discovered and listed as useful markers