基因组特征及其对乳腺癌患者的治疗影响 乳腺癌患者具有可检测的分子残留疾病
Shu Zhang1, Yan Jiang1, Lu Zhou1
1Department of Breast and Thyroid Surgery, Daping Hospital, Army Military Medical University, Chongqing, China.
Cancer research and treatment
|December 8, 2023
概括
乳腺癌手术后检测分子残留疾病 (MRD) 与特定的基因组变化有关,包括细胞循环路径变化和DNA修复缺陷. 许多患有MRD的患者仍然可以获得向治疗.
科学领域:
- 在瘤学瘤学.
- 基因组学就是基因组学.
- 癌症复发的可能
背景情况:
- 分子残留疾病 (MRD) 是术后乳腺癌复发的主要驱动因素.
- 影响MRD的基因组因素及其治疗相关性在很大程度上仍未被探索.
研究的目的:
- 研究乳腺癌患者的基线瘤基因组特征,这些患者在手术后可检测到MRD.
- 探索这些患者的治疗影响.
主要方法:
- 对1,021个与癌症相关的基因进行了下一代测序,对80名乳腺癌患者的基线瘤和术后血样本进行了测序.
- 18名可检测到MRD的患者被确定用于进一步的基因组分析.
主要成果:
- 更高的临床阶段与可检测的MRD有关.
- 包括MAP3K1,ATM和FLT1在内的基因的体质突变在MRD患者中得到了丰富.
- 细胞循环途径的改变,缺陷的DNA不匹配修复,以及激活诱导的cytidine deaminase (AID) 介导的体质突变 (SHM) 与MRD有关.
- 77.8%的MRD阳性患者有FDA批准的针对性治疗生物标志物.
结论:
- 特定的基因组特征,如细胞循环途径的改变和DNA修复缺陷,与乳腺癌中可检测的MRD有关.
- 大多数可检测的MRD患者是向治疗的候选人,这突显了基因组分析的重要性.
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