期刊
ANNALS OF HEMATOLOGY
卷 93, 期 5, 页码 797-802出版社
SPRINGER
DOI: 10.1007/s00277-013-1989-5
关键词
JAK2 gene; JAK2 46/1 haplotype; JAK2V617F alleleburden; Myeloproliferative neoplasms; Myelofibrosis; Prognosis
类别
资金
- Instituto de Salud Carlos III, Spanish Ministry of Health [FIS PI10/00236, RETICS RD12/0036/0010, RD12/0036/0004]
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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