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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Authors: | Alejandra Martínez-Trillos Margherita Maffioli Dolors Colomer Alberto Alvarez-Larrán Arturo Pereira Anna Angona Beatriz Bellosillo Francisco Cervantes |
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Affiliation: | 1. Hematology Department, Hospital Clínic, University of Barcelona, Barcelona, Spain 2. Hematopathology Unit, Hospital Clínic, IDIBAPS, Barcelona, Spain 3. Hematology Department, Hospital del Mar, Barcelona, Spain 4. Hemotherapy and Hemostasis Department, Hospital Clínic, Barcelona, Spain 5. Pathology Department, Hospital del Mar, Barcelona, Spain 6. Hematology Department, Hospital Clínic, IDIBAPS, Villarroel 170, 08036, Barcelona, Spain
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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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