在内镜治疗的设置中,对持久和复发的巴雷特食道进行分子分析
Aarti Kumar1, Marianne Rara2, Ming Yu3
1Department of Medicine, Columbia University Irving Medical Center, New York, New York, USA.
Clinical and translational gastroenterology
|July 15, 2024
概括
在治疗前巴雷特食道 (BE) 的基因组变化不能强烈预测对内镜治疗的反应. 复发可能源于未检测到的最小残留疾病,由治疗前和治疗后样本之间的共享突变表明.
科学领域:
- 胃肠病学 胃肠病学
- 在瘤学瘤学.
- 遗传学 是一个遗传学.
背景情况:
- 巴雷特食道 (BE) 瘤进展往往需要内镜治疗.
- 对一些患者来说,治疗可能是无效的,导致持续性或复发性疾病.
- 了解影响治疗结果的基因组因素至关重要.
研究的目的:
- 调查治疗前巴雷特食道 (BE) 样本中的基因组变化是否与内镜治疗后的持续或复发性疾病相关.
- 为了比较成功治疗的患者,持久性疾病和复发性疾病之间的基因组资料.
主要方法:
- 来自45名非复发性患者的治疗前食道样本的DNA测序.
- 来自40名持久性和21名复发性患者的治疗前和治疗后样本的DNA测序.
- 跨患者群体对基因组变化的比较分析.
主要成果:
- 整个基因组景观在所有群体中都是相似的.
- 在治疗前,受体氨酸激酶通路的改变,瘤基因放大和瘤抑制基因缺失在持久性疾病中更为常见 (P=0.01-0.02),但在调整后并不显著.
- 超过50%的持久或复发性疾病患者在治疗前和治疗后的样本中共享驱动突变.
结论:
- 治疗前的基因组资料显示,在BE.内镜治疗反应与内镜治疗反应的相关性有限.
- 持久性和复发性疾病的共享驱动突变表明最小的残留疾病是复发的原因.
- 基因组相似性意味着,初始基因组改变并不能强烈预测治疗失败.
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