在子宫内膜癌中,TERT促进器突变和基因放大
Aaron M Praiss1, Antonio Marra2, Qin Zhou3
1Gynecology Service, Departments of Surgery, Memorial Sloan Kettering Cancer Center, New York, NY, USA.
Gynecologic oncology
|October 27, 2023
概括
带有端粒酶逆转录酶 (TERT) 改变的子宫内膜癌 (ECs),虽然很少见,但与特定的分子亚型和明显更差的生存结果有关. 识别TERT改变的EC对于了解疾病进展和改善患者预后至关重要.
科学领域:
- 妇科瘤学 妇科瘤学
- 癌症基因组学 癌症基因组学
- 分子病理学分子病理学
背景情况:
- 子宫内膜癌 (ECs) 占妇科恶性瘤的很大一部分.
- 端粒酶逆转录酶 (TERT) 突变和放大越来越多地被认为是各种癌症中重要的分子驱动因素.
- 了解TERT改变的ECs的临床病理和分子格局对于准确的诊断和治疗分层是必不可少的.
研究的目的:
- 为了研究子宫内膜癌 (ECs) 的临床病理特征,分子概况和生存结果,与端粒酶逆转录酶 (TERT) 热点突变或基因放大.
- 为了比较TERT改变的EC与TERT野生型EC的特征.
主要方法:
- 1944年经过临床瘤正常测序的EC病例的回顾性分析.
- 具有体质TERT促进体热点突变或基因放大 (TERT-改变) 的ECs的识别和特征.
- 对TERT变异和TERT野生型EC队列的临床病理变量,体质突变概况和生存数据的评估.
主要成果:
- 66个TERT改变的EC (3%的病例) 被确定,包括TERT变异和TERT放大亚型.
- 有关TERT变化的EC与复制数 (CN) 高/TP53异常 (TP53abn) 分子类型,血清组织学以及TP53,CDKN2A/B和DROSHA突变的丰富显著相关.
- 与TERT野生型EC相比,TERT改变的EC患者的中位数无进展生存时间 (18.7个月) 和总生存时间 (46.7个月) 显着较短.
结论:
- TERT-改变的ECs虽然不常见,但具有特定的分子特征,包括CN-高/TP53abn状态和TP53,CDKN2A/B和DROSHA的改变.
- TERT变化状态独立预测子宫内膜癌患者的生存结果更差.
- 这些发现强调了TERT变化的重要性,作为EC中的预后生物标志物.
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