title: 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.
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.
authors: Hematology Department, Hospital Clínic, University of Barcelona, Barcelona, Spain.
authors: Alejandra
authors: A
authors: Martínez-Trillos
authors: Margherita
authors: M
authors: Maffioli
authors: Dolors
authors: D
authors: Colomer
authors: Alberto
authors: A
authors: Alvarez-Larrán
authors: Arturo
authors: A
authors: Pereira
authors: Anna
authors: A
authors: Angona
authors: Beatriz
authors: B
authors: Bellosillo
authors: Francisco
authors: F
authors: Cervantes
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D000483:Alleles; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D006239:Haplotypes; D006454:Hemoglobins / Q000378:metabolism; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D053614:Janus Kinase 2 / Q000235:genetics*; D007958:Leukocyte Count; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010641:Phenotype; D011087:Polycythemia Vera / Q000150:complications / Q000175:diagnosis / Q000235:genetics* / Q000401:mortality; D055728:Primary Myelofibrosis / Q000175:diagnosis / Q000209:etiology / Q000235:genetics* / Q000401:mortality; D016019:Survival Analysis; D013920:Thrombocythemia, Essential / Q000150:complications / Q000175:diagnosis / Q000235:genetics* / Q000401:mortality
chemical_list: D006454:Hemoglobins; C507924:JAK2 protein, human; D053614:Janus Kinase 2