Mutational analysis in BCR-ABL-negative classic myeloproliferative neoplasms: impact on prognosis and therapeutic choices

摘要: The diagnostic value of JAK2 mutational analysis in myeloproliferative neoplasms (MPN) is now well established and endorsed by the World Health Organization classification system for hematologic malignancies. current review focused on prognostic impact therapeutic relevance other MPN-associated mutations polycythemia vera (PV), essential thrombocythemia (ET), primary myelofibrosis (PMF). Mutations involving JAK2, MPL, TET2, ASXL1 are discussed. In general, within a specific disease category, mere presence or absence any one these does not appear to correlate with survival development blast phase disease, myelofibrosis, thrombosis. contrast, interesting associations between JAK2V617F allele burden clinical outcome (e.g. lower quartile range shorter PMF higher fibrotic transformation PV) have been made, but require further validation, their treatment choices clear. Similarly, although detection status post allogeneic hematopoietic cell transplant indicates minimal residual general use mutant monitoring response has systematically studied. Current information inhibitor drug therapy too preliminary draw conclusions.