对cfDNA的序列分析揭示了接受ALK向治疗的神经母细胞瘤患者的克隆进化
Charles Bobin1,2, Yasmine Iddir1,2, Charlotte Butterworth1,2
1SiRIC RTOP (Recherche Translationelle en Oncologie Pédiatrique), Translational Research Department, Institut Curie Research Center, PSL Research University, Institut Curie, Paris, France.
概括
使用ALK ddPCR和全外因子测序 (WES) 监测无细胞DNA (cfDNA) 的神经母细胞瘤,可以早期检测复发并揭示抵抗机制. 这种方法有助于了解瘤在向治疗期间的演变.
科学领域:
- 在瘤学瘤学.
- 遗传学 遗传学 是一个
- 分子生物学分子生物学
背景情况:
- 神经母细胞瘤是一种儿科癌症,其中对瘤遗传学的顺序分析至关重要.
- 无细胞DNA (cfDNA) 提供了一种非侵入性方法来追踪瘤中的遗传变化.
研究的目的:
- 评估cfDNA分析对于监测用lorlatinib治疗的神经母细胞瘤患者的有用性.
- 通过使用cfDNA研究瘤克隆进化和抵抗机制.
主要方法:
- 全基因组测序 (WGS) 库建设和针对热点突变的ALK定位数字滴滴PCR (ddPCR).
- 全外体序列测序 (WES) 的cfDNA评估疾病负担和克隆进化.
- 用cfDNA分析与瘤和生殖线WES进行比较.
主要成果:
- 洛拉提尼布显示了33%的整体响应率,在没有MYCN放大的患者中有效性更高.
- 在cfDNA中的ALK变异基因分数 (VAF) 与临床疾病状态相关,在成像之前更早地检测复发.
- 在治疗耐药性期间,cfDNA WES发现了新的体质突变和克隆进化,包括TP53和EGFR的变化.
结论:
- 结合cfDNA ddPCR和WES在临床上是有用的,用于监测ALK向治疗的神经母细胞瘤患者.
- 这种方法促进了对克隆进化和抵抗机制的研究.
- cfDNA分析为治疗反应和疾病进展提供了宝贵的见解.
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