title: Jak-2 positive myeloproliferative neoplasms.
abstract: Originally described by Dameshek in 1951, myeloproliferative disorders are today classified as myeloproliferative Neoplasms (MPNs) in WHO's Classification of Tumors of Hematopoietic and Lymphoid Tissues. The term includes a range of conditions, [ie, BCR-ABL-positive chronic myelogenous leukemia (CML), chronic neutrophilic leukemia (CNL), polycythemia vera (PV), primary myelofibrosis (PMF), essential thromobocythemia (ET), chronic eosinophilic leukemia not otherwise specified (CEL-NOS), mastocytosis, and unclassifiable myeloproliferative neoplasm]. In the specific case of CML, a better understanding of the pathogenesis and pathophysiology of the disease has led to a targeted therapy. The presence of chromosome Philadelphia, t(9;22)(q34;11) results in the oncogene BCR-ABL, which characterizes the disease; this molecular rearrangement gives rise to a tyrosine-kinase, which in turn triggers the proliferation of the myeloid line through the activation of the signaling pathways downstream. Tyrosine-kinase inhibitors (TKIs) have altered the therapy and monitoring of CML patients and improved both their prognosis and quality of life. In 2005, various groups of investigators described a new point mutation of the gene JAK2 associated to MPNs. Although the presence of this mutation has led to a modification in the diagnostic criteria of these conditions, the impact of the use of JAK2 inhibitors on the prognosis and course of the disease continues to be controversial.
authors.affiliation: Department of Haematology, British Hospital, Av. Italia 2420, Montevideo, Uruguay, muximeth@adinet.com.uy.
authors.forename: Pablo J
authors.initials: PJ
authors.lastname: Muxí
authors.forename: Ana Carolina
authors.initials: AC
authors.lastname: Oliver
mesh_terms: D000970:Antineoplastic Agents / Q000627:therapeutic use; D049109:Cell Proliferation; D004791:Enzyme Inhibitors / Q000627:therapeutic use; D006801:Humans; D053614:Janus Kinase 2 / Q000235:genetics* / Q000378:metabolism; D015464:Leukemia, Myelogenous, Chronic, BCR-ABL Positive / Q000235:genetics* / Q000378:metabolism; D015467:Leukemia, Neutrophilic, Chronic / Q000235:genetics / Q000378:metabolism; D009154:Mutation; D009196:Myeloproliferative Disorders / Q000235:genetics* / Q000378:metabolism; D009570:Nitriles; D010677:Philadelphia Chromosome; D011087:Polycythemia Vera / Q000235:genetics / Q000378:metabolism; D055728:Primary Myelofibrosis / Q000235:genetics / Q000378:metabolism; D011379:Prognosis; D011720:Pyrazoles / Q000627:therapeutic use; D011743:Pyrimidines; D015398:Signal Transduction; D013920:Thrombocythemia, Essential / Q000235:genetics / Q000378:metabolism
chemical_list: D000970:Antineoplastic Agents; D004791:Enzyme Inhibitors; D009570:Nitriles; D011720:Pyrazoles; D011743:Pyrimidines; C540383:ruxolitinib; C507924:JAK2 protein, human; D053614:Janus Kinase 2