非小细胞肺癌的TERT突变:临床病理学特征和预后影响
Liu Yang1,2, Meng Wang1, Na Li1
1Department of Oncology, First Affiliated Hospital of Yangtze University, Jingzhou, China.
Clinical Medicine Insights. Oncology
|June 26, 2023
概括
端粒酶逆转录酶 (TERT) 基因突变存在于11%的非小细胞肺癌 (NSCLC) 患者中,并且与更差的预后有关. 与年龄和癌症阶段一起,TERT突变是NSCLC的独立风险因素.
科学领域:
- 在瘤学瘤学.
- 分子生物学分子生物学
- 遗传学 是一个遗传学.
背景情况:
- 非小细胞肺癌 (NSCLC) 是全球癌症相关死亡的主要原因.
- 端粒酶逆转录酶 (TERT) 基因突变在NSCLC病原和预后中的作用仍然不完全理解.
- 识别与NSCLC进展相关的遗传标记对于开发向疗法至关重要.
研究的目的:
- 调查非小细胞肺癌 (NSCLC) 患者中端粒酶逆转录酶 (TERT) 基因突变的发生率和临床意义.
- 探索TERT突变与临床特征之间的关联,包括年龄,吸烟史,性别和转移.
- 评估单独和与其他常见突变 (EGFR,KRAS) 结合的TERT突变对患者预后的影响.
主要方法:
- 使用下一代测序 (NGS) 分析了来自NSCLC患者的283个瘤样本.
- 收集和分析了临床数据,包括患者人口统计,吸烟史,组织病理学和生存结果.
- 进行了统计分析,包括生存分析和多变量考克斯回归,以确定TERT突变和共变的意义.
主要成果:
- 在11% (30/283) 的NSCLC患者中发现了TERT突变,并且与年龄较大,吸烟史,男性性别和远程转移显著相关.
- 患有TERT突变的患者的整体存活率较低.
- 观察到涉及TERT和表皮生长因子受体 (EGFR) 或基尔斯大鼠肉瘤病毒 (KRAS) 的共突变,与临床特征和预后有明显的关联. TERT和KRAS共同突变与转移和更差的预后 (OS 10个月) 有关.
- 多变量分析确定年龄,癌症阶段和TERT突变状态为NSCLC的独立风险因素,TERT突变载体的风险增加了2.731倍.
结论:
- TERT突变是NSCLC的一个重要因素,与特定的临床特征和更差的预后有关.
- 与年龄和癌症阶段相结合,TERT突变的存在独立地预测NSCLC患者的不良结果.
- TERT与EGFR或KRAS的共变突出了影响NSCLC进展的复杂遗传相互作用,并需要进一步调查治疗向.
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