The Janus Kinase 2 (JAK2) V617F Mutation in Hematological Malignancies in México

Rev Invest Clin. Sep-Oct 2006;58(5):458-61.

Abstract

A new mutation (V617F) affecting the JAK2 gene has been recently described as acquired in patients with myeloproliferative disorders and other myeloid malignancies. Using an amplification refractory mutation system, we investigated this mutation in 70 Mexican mestizo patients with hematological malignancies: 28 cases of acute lymphoblastic leukemia, 17 cases of Ph1-positive chronic myelogenous leukemia, 8 patients with acute myelogenous leukemia, 6 patients with chronic lymphocytic leukemia, 6 patients with polycythemia vera (PV), two patients with essential thrombocythemia (ET), one patient with hypereosinophilic syndrome one patient with primary myelofibrosis (MF) and one patient with chronic myelomonocytic leukemia. The mutation was identified in 4 of 6 patients with PV, in one of 2 patients with ET and in the patient with MF. Our data add to the observation that the JAK2 V617F mutation seems to be rather uncommon in myeloid malignancies other than the classic BCR/ABL negative MPD.

MeSH terms

  • Hematologic Neoplasms / genetics*
  • Humans
  • Janus Kinase 2 / genetics*
  • Mexico
  • Mutation*
  • Prospective Studies

Substances

  • Janus Kinase 2