基因组测序确定了对everolimus敏感性的基础
Gopa Iyer1, Aphrothiti J Hanrahan, Matthew I Milowsky
1Human Oncology and Pathogenesis Program, Memorial Sloan-Kettering Cancer Center, New York, NY 10065, USA.
概括
全基因组测序发现了一种TSC1 (结核性硬化综合体1) 突变,与Everolimus的膀癌缓解有关. 这一发现突显了基因生物标志物的潜力,用于预测患者对向癌症治疗的反应.
科学领域:
- 在瘤学瘤学.
- 遗传学 是一个遗传学.
- 药物基因组学 药物基因组学
背景情况:
- 癌症药物可以在一小部分患者中产生显著的反应.
- 识别药物敏感性的遗传基础对于个性化医学至关重要.
研究的目的:
- 研究转移性膀癌中持续缓解的遗传基础.
- 探索全基因组测序在识别针对癌症药物敏感性的生物标志物的实用性.
主要方法:
- 在一个患有转移性膀癌的患者身上进行了全基因组测序,该患者通过使用everolimus实现了缓解.
- 针对性测序用于分析 TSC1 (结核性硬化综合体1) 突变在额外的膀癌样本.
主要成果:
- 在该患者身上发现了TSC1的功能丧失突变,TSC1是mTOR通路的调节者.
- 在109名膀癌患者中,约有8%的患者发现了TSC1突变,与everolimus敏感性相关.
结论:
- 全基因组测序可以在临床环境中识别以前未被识别的药物敏感性生物标志物.
- 在膀癌患者中,TSC1突变可能作为预测性生物标志物来预测everolimus反应.
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