Abstract 4575: Efficient and accurate NGS approach for liquid biopsy detection and monitoring

Autor: Nouran Almalki, Xu Zhang, Qingxuan Song, Ke Tang, Yang Song, Si Chen, Christopher Kasbek, Jun Huang
Rok vydání: 2018
Předmět:
Zdroj: Cancer Research. 78:4575-4575
ISSN: 1538-7445
0008-5472
Popis: Liquid biopsy detection using ctDNA has great potential in cancer diagnosis, monitoring, and predicting survival. However, detection sensitivity and specificity remains a major challenge at the current stage. Here we utilized targeted next-generation sequencing (NGS) approach to develop a noninvasive test to identify SNVs, indels, and fusions present at low frequencies in lung cancer patients. Target regions of interest were sequenced using tagging of individual molecules, followed by amplicon library generation and massive parallel sequencing using Illumina platform. The variants were called and annotated using our in-house AGIS (Actionable Genomic Interpretation System) bioinformatics pipeline. This CLIA-approved NGS panel (LiquidGx™ Lung) detects 112 variants in 10 genes (AKT1, ALK, BRAF, EGFR, ERBB2, KRAS, MET, PIK3CA, RET, and ROS1) with detection limit of 0.1%. Mutations are detected with 94% sensitivity and 99.8% specificity in a short turnaround time of 4-6 days. To assess the performance in a clinical setting, accurate sequencing was performed on 210 lung cancer patients; the frequency of mutations identified of each gene closely mirrored the published lung cancer tissue biopsy data. In summary, we have developed a potent liquid biopsy platform for highly sensitive genomic biomarker test. Our technology is also available as an assay development service and can be easily adaptable to the diagnosis and monitoring of other cancer types. Citation Format: Ke Tang, Christopher Kasbek, Yang Song, Qingxuan Song, Si Chen, Nouran Almalki, Xu Zhang, Jun T. Huang. Efficient and accurate NGS approach for liquid biopsy detection and monitoring [abstract]. In: Proceedings of the American Association for Cancer Research Annual Meeting 2018; 2018 Apr 14-18; Chicago, IL. Philadelphia (PA): AACR; Cancer Res 2018;78(13 Suppl):Abstract nr 4575.
Databáze: OpenAIRE