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

Annals of Hematology
Alejandra Martínez-TrillosFrancisco Cervantes

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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Citations

Aug 19, 2014·Current Hematologic Malignancy Reports·L A Anderson, M F McMullin
May 12, 2015·International Journal of Laboratory Hematology·L C MacedoJ E L Visentainer
Apr 12, 2018·International Journal of Molecular Sciences·Luisa AnelliFrancesco Albano
Dec 1, 2018·American Journal of Hematology·Alessandro M Vannucchi, Paola Guglielmelli
Nov 15, 2017·International Journal of Laboratory Hematology·M A StolyarI A Olkhovskiy

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