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儿童肿瘤基因检测 panel:用于儿科恶性肿瘤的新一代测序综合 panel

OncoKids: A Comprehensive Next-Generation Sequencing Panel for Pediatric Malignancies.

机构信息

Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles, Los Angeles, California; Department of Pathology, Keck School of Medicine of USC, Los Angeles, California.

Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles, Los Angeles, California.

出版信息

J Mol Diagn. 2018 Nov;20(6):765-776. doi: 10.1016/j.jmoldx.2018.06.009. Epub 2018 Aug 20.

Abstract

The OncoKids panel is an amplification-based next-generation sequencing assay designed to detect diagnostic, prognostic, and therapeutic markers across the spectrum of pediatric malignancies, including leukemias, sarcomas, brain tumors, and embryonal tumors. This panel uses low input amounts of DNA (20 ng) and RNA (20 ng) and is compatible with formalin-fixed, paraffin-embedded and frozen tissue, bone marrow, and peripheral blood. The DNA content of this panel covers the full coding regions of 44 cancer predisposition loci, tumor suppressor genes, and oncogenes; hotspots for mutations in 82 genes; and amplification events in 24 genes. The RNA content includes 1421 targeted gene fusions. We describe the validation of this panel by using a large cohort of 192 unique clinical samples that included a wide range of tumor types and alterations. Robust performance was observed for analytical sensitivity, reproducibility, and limit of detection studies. The results from this study support the use of OncoKids for routine clinical testing of a wide variety of pediatric malignancies.

摘要

OncoKids panel 是一种基于扩增的下一代测序检测方法,旨在检测儿科恶性肿瘤(包括白血病、肉瘤、脑肿瘤和胚胎性肿瘤)谱中的诊断、预后和治疗标志物。该 panel 采用低量的 DNA(20ng)和 RNA(20ng),适用于福尔马林固定、石蜡包埋和冷冻组织、骨髓和外周血。该 panel 的 DNA 内容涵盖了 44 个癌症易感性基因座、肿瘤抑制基因和癌基因的完整编码区域;82 个基因突变热点;以及 24 个基因的扩增事件。RNA 内容包括 1421 个靶向基因融合。我们通过使用包括多种肿瘤类型和改变的 192 个独特临床样本的大型队列来描述该 panel 的验证。在分析灵敏度、重现性和检测限研究中观察到了强大的性能。这项研究的结果支持将 OncoKids 用于广泛儿科恶性肿瘤的常规临床检测。

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