The allele burden of JAK2 mutations remains stable over several years in patients with myeloproliferative disorders

作者：Theocharides Alexandre; Passweg Jakob R; Medinger Michael; Looser Renate; Li Sai; Hao Shen Hui; Buser Andreas S; Gratwohl Alois; Tichelli Andre; Skoda Radek C^*

来源：Haematologica-The Hematology Journal, 2008, 93(12): 1890-1893.

DOI：10.3324/haematol.13074

• Janus kinase
• JAK2-V617F
• hydroxyurea
• interferon

In a retrospective single center study we determined the time course of the JAK2-V617F or JAK2 exon 12 allele burden in DNA from purified granulocytes from 48 patients with myeloproliferative disorders. The percentage of change between the first and last sample in JAK2-V617F positive patients without cytoreductive therapy (n=16) was only +9% during a follow-up of 36 13 months, reflecting a remarkably stable mutant allele burden. When treatment with hydroxyurea was initiated during the course of the study, we observed a significant decrease of the JAK2-V617F allele burden (n=6). However, in JAK2-V617F positive patients who were already on hydroxyurea treatment before the first blood sampling (n=14), we observed stable allelic ratios with a variance of only +3% during a follow-up of 34 16 months. Our data suggest that in untreated myeloproliferative disorders patients, from whom samples at diagnosis are not available, the JAK2 allele burden determined at later stages could be equally informative.

• 出版日期2008-12