Characteristics and clinical correlates of MPL 515W>L/K mutation in essential thrombocythemia

Blood. 2008 Aug 1;112(3):844-7. doi: 10.1182/blood-2008-01-135897. Epub 2008 Jun 2.

Abstract

Among 994 patients with essential thrombocythemia (ET) who were genotyped for the MPLW515L/K mutation, 30 patients carrying the mutation were identified (3.0%), 8 of whom also displayed the JAK2V671F mutation. MPLW515L/K patients presented lower hemoglobin levels and higher platelet counts than did wild type (wt) MPL; these differences were highly significant compared with MPLwt/JAK2V617F-positive patients. Reduced hemoglobin and increased platelet levels were preferentially associated with the W515L and W515K alleles, respectively. MPL mutation was a significant risk factor for microvessel disturbances, suggesting platelet hyperreactivity associated with constitutively active MPL; arterial thromboses were increased only in comparison to MPLwt/JAK2wt patients. MPLW515L/K patients presented reduced total and erythroid bone marrow cellularity, whereas the numbers of megakaryocytes, megakaryocytic clusters, and small-sized megakaryocytes were all significantly increased. These data indicate that MPLW515L/K mutations do not define a distinct phenotype in ET, although some differences depended on the JAK2V617F mutational status of the counterpart.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Aged
  • Aged, 80 and over
  • Female
  • Genotype
  • Hemoglobins / analysis
  • Humans
  • Janus Kinase 2 / genetics*
  • Male
  • Middle Aged
  • Mutation*
  • Phenotype
  • Platelet Activation
  • Platelet Count
  • Receptors, Thrombopoietin / genetics*
  • Thrombocythemia, Essential / blood
  • Thrombocythemia, Essential / genetics*
  • Thrombocythemia, Essential / pathology
  • Thrombosis

Substances

  • Hemoglobins
  • Receptors, Thrombopoietin
  • MPL protein, human
  • Janus Kinase 2