进化研究表明,DCIS的复发与乳腺癌的进展不同
Angelo Fortunato1,2, Diego Mallo1,2, Luis Cisneros1
1Arizona Cancer Evolution Center and Biodesign Center for Biocomputing, Security and Society, Arizona State University, 727 E. Tyler St., Tempe, AZ 85281, USA.
medRxiv : the preprint server for health sciences
|August 26, 2024
概括
瘤内部的异质性预测了管道癌在位 (DCIS) 的复发,但不是向侵袭性癌症的进展. 治疗和ER状态也会影响DCIS复发风险. 遗传差异预测了DCIS的结果.
科学领域:
- 在瘤学瘤学.
- 遗传学 是一个遗传学.
- 癌症生物学 癌症生物学
背景情况:
- 从局部导管癌 (DCIS) 到侵袭性癌症的进展受到体质演变和临床治疗的影响.
- 瘤内部异质性,包括遗传和表型变异,被假设可以预测DCIS的临床结果.
- DCIS作为细胞自然选择的基质,使异质性成为疾病进展的关键因素.
研究的目的:
- 调查基因和表型瘤内部异质性在预测DCIS临床结果中的作用.
- 区分非侵袭性DCIS复发的预测因子与侵袭性疾病进展的预测因子.
主要方法:
- 从每个DCIS中分析两个不同的焦点,使用全外体测序,低通全基因组测序和免疫组织化学标记.
- 对横截面 (N=119) 和纵向 (N=224) 队列的分析.
- 统计建模包括Cox比例危险模型与FDR校正,以确定重要的预测因素.
主要成果:
- 在纵向队列中,DCIS复发的预测因素包括治疗类型,ER状态和样本之间的单核酸变异 (SNV) 差异.
- 在横截面队列中,SNV分歧也区分了纯粹的DCIS和同步侵入性疾病的DCIS.
- 侵袭性疾病进展的预测因素是外科手术边缘宽度和高频突变的数量.
结论:
- DCIS的复发是一个独特的临床和生物过程,与进展为侵袭性疾病分开.
- 瘤内部异质性,特别是SNV分歧,是DCIS复发的重要预测因素.
- 治疗和ER状态是影响DCIS复发风险的关键因素.
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