a7.ngs用于指导晚期恶性肿瘤治疗的

NGS用于指导晚 治InsightonNovelMechanismsandPrecision浙江大学医学院附 医院肿瘤内PresentedByClaudineIsaacsat2016ASCOAnnual—甚至PresentedByDavidHayesat2016ASCOAnnual

02009201020112012201320142015NGS指导下的肿瘤免疫治 NGS在多种实体肿瘤治疗中的应—单核苷酸变异（突变—单核苷酸变异（突变—•••••••••（DNA或RNA特PresentedByDavidHayesat2016ASCOAnnual PresentedByDouglasJohnsonat2016ASCOAnnualPresentedByDouglasJohnsonat2016ASCOAnnual 抗PD-1/PD-L1的候选标记 PresentedByDouglasJohnsonat2016ASCOAnnual PresentedByDouglasJohnsonat2016ASCOAnnualPresentedByDouglasJohnsonat2016ASCOAnnual PresentedByDouglasJohnsonat2016ASCOAnnual PresentedByDouglasJohnsonat2016ASCOAnnual PresentedByDouglasJohnsonat2016ASCOAnnual PresentedByDouglasJohnsonat2016ASCOAnnual PresentedByDouglasJohnsonat2016ASCOAnnual PresentedByDouglasJohnsonat2016ASCOAnnual PresentedByDouglasJohnsonat2016ASCOAnnual PresentedByDouglasJohnsonat2016ASCOAnnualTCR克 PresentedByDouglasJohnsonat2016ASCOAnnual PresentedByDouglasJohnsonat2016ASCOAnnual236-315 PresentedByDouglasJohnsonat2016ASCOAnnual PresentedByDavidHayesat2016ASCOAnnual在治疗中，9个（39%）患者出现了13种突 PresentedByDavidHayesat2016ASCOAnnual纵纵向血浆游离DNA（n=23）的NGS发现克隆演者中为一致，3（13%）患者中为不一PresentedByLillianSmythat2016ASCOAnnual血浆游离DNA（cfDNA)的NGS揭示AKT1E17K突（AZD5363）I期篮子研究的患者分 其中一个驱 ，AKT1E17K突—反复的（~2%），人 细胞对AKT1E17KPresentedByLillianSmythat2016ASCOAnnual 而单个病灶的活检存在很多（异质性，局限的可行PresentedByLillianSmythat2016ASCOAnnual背背 液体活 PresentedByLillianSmythat2016ASCOAnnual 发现及追踪AKT1E17K描述具有AKT1E17KPresentedByLillianSmythat2016ASCOAnnual—AKT1E17K -已知具有RAS/RAF突变的肿瘤患者被排-根据RECISTv1.1标准定义，具有可测量病PresentedByLillianSmythat2016ASCOAnnual PresentedByLillianSmythat2016ASCOAnnual PresentedByLillianSmythat2016ASCOAnnual PresentedByLillianSmythat2016ASCOAnnualddPCR检测到在D21，AKT1

AKT1追踪肿瘤反分数（MAF）在ddPCRPresentedByLillianSmythat2016ASCOAnnual治治疗前cfDNA（n=25）的NGS发现肿瘤异质在8个中检测到17种额外的改变（共21发现3个 中同时出现了相关的突变KRAS），但是所有都对药物治疗没有反PresentedByLillianSmythat2016ASCOAnnual PresentedByLillianSmythat2016ASCOAnnual治疗前的cfDNA发现肿瘤异质 PresentedByLillianSmythat2016ASCOAnnual在这项探索性研究中，对通 panel捕获的cfDNA迚行二是可行的，幵且不ddPCR得到的结果高度一 PresentedByLillianSmythat2016ASCOAnnual 变