Department of Medical and Surgical Sciences, University of Padova Medical School, Padova, Italy.
Aging Clin Exp Res. 2011 Feb;23(1):17-21. doi: 10.1007/BF03324948.
JAK2V617F mutation occurs in 90% of polycythemia vera (PV) and in 50% of essential thrombocythemia (ET) patients.
253 consecutive patients affected by myeloproliferative disorders (MPD, 121 PV, 132 ET) were evaluated and stratified in 4 age groups: 18-39, 40-59, 60-75 and over 75 years (>75). The JAK2V617F mutation was searched and its allele burden was evaluated.
The percentage of mutated patients increased progressively with age mainly in patients >75 (p=0.0015 vs 18-39, p=0.0021 vs 40-59 and p=0.012 vs 60-75). We also found a progressive increase in allele burden with age (R2=0.042). Thrombotic events were more common in patients carrying the mutation in comparison with wild type (WT) (p=0.006, coefficient risk 1.94). No differences in the percentage of patients carrying the JAK2V617F mutation were found, in spite of different follow-up durations (<5 yrs, 5-10 yrs, 10-15 yrs, >15 yrs). The JAK2V617F allele burden was similar in patients with (57 ± 31%) and without (45 ± 26%) long-term hydroxyurea treatment.
JAK2V617F mutation is more common in old than in young patients with MPD. Older patients have an higher allele burden.
JAK2V617F 突变发生在 90%的真性红细胞增多症（PV）和 50%的原发性血小板增多症（ET）患者中。
评估了 253 例连续的骨髓增殖性疾病（MPD）患者，其中 121 例为 PV，132 例为 ET，并将其分为 4 个年龄组：18-39 岁、40-59 岁、60-75 岁和>75 岁（>75 岁）。检测 JAK2V617F 突变并评估其等位基因负荷。
突变患者的百分比随着年龄的增长而逐渐增加，主要在>75 岁的患者中（p=0.0015 与 18-39 岁，p=0.0021 与 40-59 岁，p=0.012 与 60-75 岁）。我们还发现随着年龄的增长，等位基因负荷呈逐渐增加的趋势（R2=0.042）。与野生型（WT）相比，携带突变的患者发生血栓事件更为常见（p=0.006，风险系数 1.94）。尽管随访时间不同（<5 年、5-10 年、10-15 年、>15 年），但携带 JAK2V617F 突变的患者比例没有差异。携带 JAK2V617F 突变的患者的等位基因负荷与未携带的患者相似（57 ± 31%与 45 ± 26%）。
JAK2V617F 突变在 MPD 老年患者中比年轻患者更为常见。老年患者的等位基因负荷更高。
