The Gain-of-Function JAK2 V617F Mutation Shifts the Phenotype of Essential Thrombocythemia and Chronic Idiopathic Myelofibrosis to More “Erythremic” and Less “Thrombocythemic”: A Molecular, Histologic, and Clinical Study

  • Zbigniew Rudzki
  • Tomasz Sacha
  • Anastazja Stój
  • Sylwia Czekalska
  • Malgorzata Wójcik
  • Aleksander B. Skotnicki
  • Barbara Grabowska
  • Andrzej Zduńczyk
  • Krzysztof Okoń
  • Jerzy Stachura
Article

Abstract

We investigated the prevalence of the JAK2 V617F gain-of-function mutation in patients with Philadelphia chromosome-negative chronic myeloproliferative disorders (Ph- MPD) and explored the links between JAK2 mutational status and the clinicopathologic picture of essential thrombocythemia (ET), chronic idiopathic myelofibrosis (CIMF), and polycythemia vera (PV). Allele-specific polymerase chain reaction results for 59 ET, 18 CIMF, and 9 PV cases were compared with values for clinical variables at presentation and last follow-up and with the diagnostic trephine bone marrow biopsy pictures. JAK2 V617F was found in 38 (64%) of ET cases, 7 (39%) of CIMF cases, and 9 (100%) of PV cases. The ET patients with the mutant JAK2 showed significantly higher (although not overtly polycythemic) red blood cell parameter values, lower platelet counts, and higher white blood cell counts. Similar trends were found in CIMF. Megakaryocyte clustering was much less pronounced in the CIMF cases with mutant JAK2, with an analogous trend occurring in the ET cases. Bone marrow cellularity values and the numbers of CD34+ and CD117+ blasts in the ET and CIMF groups did not differ. Fibrosis was slightly less marked in the ET cases with mutant JAK2. The mutation did not significantly influence the clinical course during the follow-up in either disease in the short term (median follow-up, 22 months). The JAK2 V617F mutation is prevalent in all Ph- MPD and may skew their presenting phenotype, including bone marrow histology, toward a more “erythremic” and less “thrombocythemic” phenotype.

Key words

JAK2 Mutation Myeloproliferative disorders Trephine bone marrow biopsy 

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Copyright information

© The Japanese Society of Hematology 2007

Authors and Affiliations

  • Zbigniew Rudzki
    • 1
  • Tomasz Sacha
    • 2
  • Anastazja Stój
    • 1
  • Sylwia Czekalska
    • 2
  • Malgorzata Wójcik
    • 2
  • Aleksander B. Skotnicki
    • 2
  • Barbara Grabowska
    • 3
  • Andrzej Zduńczyk
    • 3
  • Krzysztof Okoń
    • 1
  • Jerzy Stachura
    • 1
  1. 1.Department of Pathomorphology, Collegium MedicumJagiellonian UniversityKrakówPoland
  2. 2.Department of Hematology, Collegium MedicumJagiellonian UniversityKrakówPoland
  3. 3.Ludwik Rydygier Memorial District HospitalKrakówPoland
  4. 4.Department of HistopathologyBirmingham Heartlands HospitalBordesleyUnited Kingdom

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