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Relationship between the 46/1 haplotype of the JAK2 gene and the JAK2 mutational status and allele burden, the initial findings, and the survival of patients with myelofibrosis

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Abstract

An association has been reported between a specific haplotype of the JAK2 gene, the homozygous 46/1 haplotype, and a predisposition to the development of chromosome Philadelphia-negative myeloproliferative neoplasms. Concerning myelofibrosis (MF), controversy remains on the relationship between the above JAK2 haplotype and the patients’ clinicohematological features and survival. Among 132 patients with MF (60 % primary MF, 20 % postpolycythemia vera MF, 20 % post-essential thrombocythemia MF; 59 % JAK2V617F positive) who were analyzed for the JAK2 46/1 haplotype, 29 were found to be homozygous and 53 heterozygous. The homozygous 46/1 haplotype was more often observed in JAK2V617F-positive patients (29.5 versus 11 %, p = 0.012). Moreover, among JAK2V617F-positive patients, those who were homozygous for the 46/1 haplotype had a higher allele burden than the remainder (92 versus 48 %, p = 0.0017). Overall, patients with homozygous 46/1 haplotype showed significantly higher hemoglobin values and higher leukocyte counts, but no association was seen with other clinicohematological features. Finally, no relationship was observed between the JAK2 46/1 haplotype and either the patients’ prognostic score or survival.

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Acknowledgments

This work has been supported in part by grants FIS PI10/00236 and RETICS RD12/0036/0010 and RD12/ 0036/0004 from the Instituto de Salud Carlos III, Spanish Ministry of Health.

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Authors and Affiliations

  1. Hematology Department, Hospital Clínic, University of Barcelona, Barcelona, Spain

    Alejandra Martínez-Trillos, Margherita Maffioli & Francisco Cervantes

  2. Hematopathology Unit, Hospital Clínic, IDIBAPS, Barcelona, Spain

    Dolors Colomer

  3. Hematology Department, Hospital del Mar, Barcelona, Spain

    Alberto Alvarez-Larrán

  4. Hemotherapy and Hemostasis Department, Hospital Clínic, Barcelona, Spain

    Arturo Pereira

  5. Pathology Department, Hospital del Mar, Barcelona, Spain

    Anna Angona & Beatriz Bellosillo

  6. Hematology Department, Hospital Clínic, IDIBAPS, Villarroel 170, 08036, Barcelona, Spain

    Francisco Cervantes

Authors
  1. Alejandra Martínez-Trillos
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  2. Margherita Maffioli
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  3. Dolors Colomer
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  4. Alberto Alvarez-Larrán
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  5. Arturo Pereira
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  6. Anna Angona
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  7. Beatriz Bellosillo
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  8. Francisco Cervantes
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Correspondence to Francisco Cervantes.

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Martínez-Trillos, A., Maffioli, M., Colomer, D. et al. Relationship between the 46/1 haplotype of the JAK2 gene and the JAK2 mutational status and allele burden, the initial findings, and the survival of patients with myelofibrosis. Ann Hematol 93, 797–802 (2014). https://doi.org/10.1007/s00277-013-1989-5

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  • DOI: https://doi.org/10.1007/s00277-013-1989-5

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