Mutaciones del gen JAK2 en CMPDs BCR/ABL y su relación con la trombosis derivada de estas patologías

Abstract

BCR/ABL- Chronic Myeloproliferative Disorders (CMPDs), also called Philadelphia-negative Myeloproliferative Neoplasms (Phi- MPNs), are a group of diseases with clinical and biological similarities, which are characterized by presenting: • Hematopoietic stem cell disorders. • Increased production of mature hematopoietic elements. • Hypercellularity in bone marrow. • Cytogenetic alterations. • Splenomegaly. • Sustained increase in the activity of the myeloid line. • Thrombotic and/or bleeding complications. • Absence of the BCR/ABL fusion gene (Philadelphia chromosome) This group includes essential thrombocytosis (ET,) polycythemia vera (PV) and primary myelofibrosis(MF). Thrombotic complications represent the most important cause of morbidity and mortality in these pathologies, however, the molecular mechanisms that lead to thrombosis in them are not exactly known. The discovery of JAK2V617F mutation marked a radical change in the diagnosis and understanding of these diseases. There is evidence that mutations in this gene could be related to thrombotic risk...