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首页> 美国卫生研究院文献>Neuro-Oncology >TBIO-20. CLINICAL TUMOR WHOLE EXOME SEQUENCING FOR PEDIATRIC NEURO-ONCOLOGY PATIENTS – RESULTS FROM THE BAYLOR ADVANCING SEQUENCING IN CHILDHOOD CANCER CARE (BASIC3) CLINICAL SEQUENCING STUDY
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TBIO-20. CLINICAL TUMOR WHOLE EXOME SEQUENCING FOR PEDIATRIC NEURO-ONCOLOGY PATIENTS – RESULTS FROM THE BAYLOR ADVANCING SEQUENCING IN CHILDHOOD CANCER CARE (BASIC3) CLINICAL SEQUENCING STUDY

机译：TBIO-20。小儿神经肿瘤患者的临床肿瘤全基因组测序-儿童癌症护理（BASIC3）临床测序研究中Baylor先进测序的结果

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Tumor mutations detected by genomic tests such as whole-exome sequencing (WES) have the potential to affect clinical management; however, data regarding clinical utility in pediatric neuro-oncology are limited. In order to investigate this topic, enrollment onto the BASIC3 clinical exome sequencing study was offered to children with newly-diagnosed CNS and non-CNS solid tumors. WES was performed on tumor (when available) and blood specimens in a certified clinical laboratory, with resulting genetic variants categorized by perceived clinical relevance and reported to the electronic health record. Mutations were also annotated following recent consensus guidelines (Li et al. J Mol Diagn 2017). WES was performed on 71 tumors obtained from 70 of 98 patients with CNS tumors on the BASIC3 study (71%), including embryonal tumors (medulloblastoma, n=18; PNET or pineoblastoma, n=5), LGG (n=9), HGG (n=7), and ependymal tumors (n=9). Analysis per the new guidelines revealed 21% (15/71) of tumors harbored a variant of “Strong Clinical Significance” (Tier 1) and 27% (19/71) a variant of “Potential Clinical Significance” (Tier 2). Targetable mutations involved the MAPK pathway (BRAF x 6, KRAS, FGFR1), PI3K/MTOR pathway (TSC1, PIK3CA), SWI/SNF family (SMARCB1, SMARCA4), and other protein kinases (PDGFRA x 2). The rate of clinically relevant mutations differed by histology, with frequent variants in LGG (4/9, 44%), HGG (6/7, 86%), and medulloblastoma (7/18, 39%), but not ependymal tumors (0/9, 0%). These data highlight the promise of clinical genomic testing for pediatric brain tumor patients as well as the need for integrated (DNA/RNA) genomic tumor testing to maximize diagnostic yield.
机译：通过基因组测试（例如全外显子测序（WES））检测到的肿瘤突变有可能影响临床管理。但是，有关小儿神经肿瘤临床应用的数据有限。为了调查该主题，向患有新诊断的CNS和非CNS实体瘤的儿童提供了BASIC3临床外显子组测序研究的注册。 WES是在经过认证的临床实验室中对肿瘤（如果有）和血液样本进行的，其产生的遗传变异按照感知的临床相关性进行分类，并报告给电子健康记录。遵循最新共识指南也对突变进行了注释（Li et al.J Mol Diagn 2017）。在BASIC3研究中，对98例中枢神经系统肿瘤患者中的70例中的71例进行了WES治疗（71％），包括胚胎肿瘤（髓母细胞瘤，n = 18； PNET或成胚细胞瘤，n = 5），LGG（n = 9） HGG（n = 7）和室管膜肿瘤（n = 9）。根据新指南进行的分析显示，有21％（15/71）的肿瘤具有“强大的临床意义”（方法1）和27％（19/71）的具有“潜在临床意义”（方法2）。可靶向的突变涉及MAPK途径（BRAF x 6，KRAS，FGFR1），PI3K / MTOR途径（TSC1，PIK3CA），SWI / SNF家族（SMARCB1，SMARCA4）和其他蛋白激酶（PDGFRA x 2）。临床相关突变的比率因组织学而异，在LGG（4/9，44％），HGG（6/7，86％）和髓母细胞瘤（7/18，39％）中频繁发生变异，但在室间隔膜肿瘤中无差异（ 0 / 9，0％）。这些数据凸显了对儿科脑肿瘤患者进行临床基因组测试的前景，以及对整合（DNA / RNA）基因组肿瘤测试以最大化诊断产量的需求。

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