早期乳腺癌患者结构变异的预后值
Ji-Yeon Kim1,2, Kyunghee Park3, Woong-Yang Park3
1Division of Hematology-Oncology, Department of Medicine, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
NPJ breast cancer
|July 27, 2024
概括
乳腺癌 (BC) 的基因组结构变异 (SV) 在亚型中表现出多样化的模式. 在三阴性乳腺癌 (TNBC) 中,较多的融合与较差的存活率和免疫状态的改变有关.
科学领域:
- 基因组学就是基因组学.
- 在瘤学瘤学.
- 生物信息学是一种生物信息学.
背景情况:
- 乳腺癌 (BC) 的结构变异 (SV) 的基因组分析对于了解预后至关重要.
- 特定基因组变化与BC患者的结局之间的关系仍然不完全理解.
研究的目的:
- 为了调查SVs的风景,特别是基因融合,在早期阶段BC.
- 探索基因融合数量与BC内在亚型之间的关联.
- 确定基因融合负担与患者存活率之间的相关性,特别是在三阴性乳腺癌 (TNBC) 中.
主要方法:
- 在297个新鲜冷的早期BC组织上进行了RNA测序.
- 使用STAR.Arriba,STAR.fusion和STAR.SEQR工具识别了结构变体 (SVs),使用COSMIC和Mitelman数据库为指导.
- 进行了统计分析,以比较BC亚型的融合频率,并将融合负载与五年无事件生存率 (5Y-EFS) 和免疫评分相关联.
主要成果:
- 每个样本中检测到的基因融合中位数为5-8个,在BC内在亚型中显著变化 (p <0.05).
- 染色体内融合比染色体间融合更为普遍,染色体17是最常见的融合位置.
- 较高的聚变负担与较低的5Y-EFS (68.1%) 相比,与较低的聚变负担 (80.1%) (p = 0.024) 相关.
- 在TNBC中,增加的融合与更短的EFS相关 (65.1% vs. 85.7%,p = 0.013) 并与免疫状况相关 (ImmuneScore,p < 0.005).
结论:
- 基因融合概况在BC亚型之间有所不同,表明亚型特定的基因组事件.
- 基因融合的数量是BC的显著预后因素,特别影响TNBC的存活率.
- 融合负担和免疫状态在TNBC中相互联系,影响患者的结果.
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