在患有局部晚期或远程转移性差异化甲状腺癌的患者中融合瘤基因
Gaoda Ju1,2,3,4, Yuqing Sun2,3, Hao Wang5
1Department of Medical Oncology, Key Laboratory of Carcinogenesis & Translational Research (Ministry of Education/Beijing), Peking University Cancer Hospital and Institute, Beijing, 100142, China.
The Journal of clinical endocrinology and metabolism
|August 25, 2023
概括
融合瘤基因在儿科分化甲状腺癌 (DTC) 中更常见,并且与放射性 (RAI) 折射性有关. 在成年人中,TERT突变,而不是融合,是高级DTC中RAI折射性的主要驱动因素.
科学领域:
- 在瘤学瘤学.
- 遗传学 是一个遗传学.
- 分子生物学分子生物学
背景情况:
- 融合瘤基因是晚期差异化甲状腺癌 (DTC) 的关键驱动因素,经常导致对放射性 (RAI) 治疗的耐药性.
- 了解这些基因变异在不同患者群体中的特定作用对于有针对性的治疗策略至关重要.
研究的目的:
- 为了研究融合瘤基因与临床病理特征之间的关联,在一个大队伍的高级分化甲状腺癌 (DTC) 患者.
- 确定融合瘤基因 (RET,NTRK,ALK) 的患病率及其与患者年龄,瘤阶段和放射性 (RAI) 折射率的相关性.
主要方法:
- 使用26个基因小组 (ThyroLead) 进行了针对性下一代测序,对来自局部晚期或转移性DTC患者的278个瘤样本进行了测序.
- 临床病理学数据,包括美国癌症联合委员会 (AJCC) 的分期和放射性 (RAI) 折射性,与已识别的融合瘤基因相关分析.
主要成果:
- 在29.86%的晚期DTC病例中发现了融合瘤基因,儿童患者的患病率更高 (OR 2.411).
- 融合瘤基因与更先进的AJCC N和M阶段相关,并与儿科RAI折射性相关 (OR 4.85).
- 在成人DTC中,TERT突变是RAI折射性的主导因素 (OR 7.36),融合瘤基因显示较少的关联 (OR 0.50).
结论:
- 融合瘤基因在儿科DTC中更为普遍,并且与RAI折射性有关.
- TERT突变,而不是融合瘤基因,是成人高级DTC中RAI折射性的主要遗传驱动因素.
- 这些发现突出了差异化甲状腺癌中RAI折射性的特定年龄的遗传驱动因素,为个性化治疗方法提供了信息.
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