Refractory anemia with ringed sideroblasts associated with thrombocytosis: comparative analysis of marked with non-marked thrombocytosis, and relationship with JAK2 V617F mutational status

Int J Hematol. 2008 Nov;88(4):387-395. doi: 10.1007/s12185-008-0169-1. Epub 2008 Sep 27.

Abstract

The World Health Organization (WHO) classification of tumors of hematopoietic and lymphoid tissues (2001) defined a provisional entity named refractory anemia with ringed sideroblasts associated to marked thrombocytosis (RARS-MT). Diagnosis of RARS-MT requires more than 15% of ringed sideroblasts in bone marrow aspirate and the existence of a thrombocytosis in blood, with a platelet count above 600 x 10(9)/L. Nevertheless, controversy exists regarding this platelet count "cut-off" value and, when RARS-MT was defined, the JAK2 mutation and its importance in the study of myeloproliferative disorders was unknown. We present the results of a Spanish retrospective multicentric study, which includes 76 cases of RARS with associated thrombocytosis (platelet count above 400 x 10(9)/L) at diagnosis (RARS-T), 36 of them with a platelet count above 600 x 10(9)/L. Our aim was to analyze their clinical, analytical and morphological characteristics, and to establish correlations with the JAK2 mutational status.

Publication types

  • Multicenter Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Aged
  • Aged, 80 and over
  • Amino Acid Substitution
  • Anemia, Refractory / blood
  • Anemia, Refractory / genetics*
  • Anemia, Refractory / pathology*
  • Bone Marrow Cells / metabolism
  • Bone Marrow Cells / pathology
  • Female
  • Humans
  • Janus Kinase 2 / genetics*
  • Janus Kinase 2 / metabolism
  • Male
  • Middle Aged
  • Mutation, Missense*
  • Platelet Count
  • Retrospective Studies
  • Thrombocytosis / blood
  • Thrombocytosis / genetics*
  • Thrombocytosis / pathology*

Substances

  • JAK2 protein, human
  • Janus Kinase 2