实体瘤二代测序分子分析：来自临床实验室的经验表5

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• 源站标题：Table_5_Molecular profiling of solid tumors by next-generation sequencing: an experience from a clinical laboratory.xlsx
• DOI：10.3389/fonc.2023.1208244.s005
• 发布日期：2023-07-06
• 文件数：1 个
• 文件总体积：13.15 KB
• 源站页面：https://frontiersin.figshare.com/articles/dataset/Table_5_Molecular_profiling_of_solid_tumors_by_next-generation_sequencing_an_experience_from_a_clinical_laboratory_xlsx/23633592

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• Table_5_Molecular profiling of solid tumors by next-generation sequencing: an experience from a clinical laboratory.xlsx（13.15 KB）

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数据说明

BackgroundPersonalized targeted therapies have transformed management of several solid tumors. Timely and accurate detection of clinically relevant genetic variants in tumor is central to the implementation of molecular targeted therapies. To facilitate precise molecular testing in solid tumors, targeted next-generation sequencing (NGS) assays have emerged as a valuable tool. In this study, we provide an overview of the technical validation, diagnostic yields, and spectrum of variants observed in 3,164 solid tumor samples that were tested as part of the standard clinical diagnostic assessment in an academic healthcare institution over a period of 2 years.
MethodsThe Ion Ampliseq™ Cancer Hotspot Panel v2 assay (ThermoFisher) that targets ~2,800 COSMIC mutations from 50 oncogenes and tumor suppressor genes was validated, and a total of 3,164 tumor DNA samples were tested in 2 years. A total of 500 tumor samples were tested by the comprehensive panel containing all the 50 genes. Other samples, including 1,375 lung cancer, 692 colon cancer, 462 melanoma, and 135 brain cancer, were tested by tumor-specific targeted subpanels including a few clinically actionable genes.
ResultsOf 3,164 patient samples, 2,016 (63.7%) tested positive for at least one clinically relevant variant. Of 500 samples tested by a comprehensive panel, 290 had a clinically relevant variant with TP53, KRAS, and PIK3CA being the most frequently mutated genes. The diagnostic yields in major tumor types were as follows: breast (58.4%), colorectal (77.6%), lung (60.4%), pancreatic (84.6%), endometrial (72.4%), ovary (57.1%), and thyroid (73.9%). Tumor-specific targeted subpanels also demonstrated high diagnostic yields: lung (69%), colon (61.2%), melanoma (69.7%), and brain (20.7%). Co-occurrence of mutations in more than one gene was frequently observed.
ConclusionsThe findings of our study demonstrate the feasibility of integrating an NGS-based gene panel screen as part of a standard diagnostic protocol for solid tumor assessment. High diagnostic rates enable significant clinical impact including improved diagnosis, prognosis, and clinical management in patients with solid tumors.

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CC BY 4.0

引用

学术使用请引用 DOI 10.3389/fonc.2023.1208244.s005（source: https://frontiersin.figshare.com/articles/dataset/Table_5_Molecular_profiling_of_solid_tumors_by_next-generation_sequencing_an_experience_from_a_clinical_laboratory_xlsx/23633592）。