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JAK2V617F 突变在老年真性红细胞增多症和原发性血小板增多症患者中常见。

JAK2V617F mutation is common in old patients with polycythemia vera and essential thrombocythemia.

机构信息

Department of Medical and Surgical Sciences, University of Padova Medical School, Padova, Italy.

出版信息

Aging Clin Exp Res. 2011 Feb;23(1):17-21. doi: 10.1007/BF03324948.

Abstract

BACKGROUND

JAK2V617F mutation occurs in 90% of polycythemia vera (PV) and in 50% of essential thrombocythemia (ET) patients.

MATERIALS AND METHODS

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.

RESULTS

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.

CONCLUSIONS

JAK2V617F mutation is more common in old than in young patients with MPD. Older patients have an higher allele burden.

摘要

背景

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。

材料和方法

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。

结果

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%)。

结论

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。

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