识别局部复发与第二次原发性乳腺癌:基因组与卡罗来纳州乳腺癌研究III期临床标准的基因组对比
Sarah C Van Alsten1, Michael I Love2, Benjamin C Calhoun2
1University of North Carolina at Chapel Hill, Chapel Hill, United States.
概括
区分乳腺癌复发与新的原发性瘤是具有挑战性的. 基因组分析表明,虽然大多数复发病例被正确识别,但新的原发性乳腺癌通常被错误分类,可能导致过度治疗.
科学领域:
- 在瘤学瘤学.
- 基因组学就是基因组学.
- 癌症研究 癌症研究
背景情况:
- 对于孤立的乳腺内瘤复发和新的原发性乳腺瘤的治疗策略有很大的不同.
- 准确区分复发和新发原发性乳腺瘤对于适当的治疗至关重要,但使用当前的放射和组织学标准容易出现错误.
- 缺少黄金标准的基因组数据集阻碍了对分类准确性的评估.
研究的目的:
- 通过基因组数据评估乳腺癌复发和新的原发性瘤之间的错误分类范围.
- 将基于DNA的分类与传统的临床和监测,流行病学和最终结果 (SEER) 分类进行比较.
主要方法:
- 1200个基因的DNA测序在卡罗来纳州乳腺癌研究 (CBCS3) 中对108名患有第二次乳腺癌的参与者进行.
- 用DNA测序数据确定复发状态,分析突变和拷贝数变异.
- 基于DNA的分类与基于横向性,组织学,象限和延迟性的临床和SEER分类进行了比较.
主要成果:
- 基因组分析将79%的两侧瘤对归类为基于共享突变的复发.
- 病理学家对两侧二次瘤的分类显示了79%的准确性,具有高灵敏度但低特异性.
- 与病理学家分类相比,SEER分类的准确性为82%,敏感度较低但特异性更高.
结论:
- 基因组方法可以更准确地分类乳腺癌复发与新出现的原发性瘤.
- 当前的临床和SEER分类经常错误地分类新的原发性乳腺癌.
- 基因组洞察力可能使第二种乳腺癌的治疗减缓,减少过度治疗的危害.
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