Identification of Potential Genomic Alterations Using Pan-Cancer Cell-Free DNA Next-Generation Sequencing in Patients With Gastric Cancer.

IF 4 2区 医学 Q1 MEDICAL LABORATORY TECHNOLOGY
Annals of Laboratory Medicine Pub Date : 2024-03-01 Epub Date: 2023-10-30 DOI:10.3343/alm.2023.0187
Boyeon Kim, Yoonjung Kim, Jae Yong Cho, Kyung-A Lee
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引用次数: 1

Abstract

Background: Molecular cancer profiling may lead to appropriate trials for molecularly targeted therapies. Cell-free DNA (cfDNA) is a promising diagnostic and/or prognostic biomarker in gastric cancer (GC). We characterized somatic genomic alterations in cfDNA of patients with GC.

Methods: Medical records and cfDNA data of 81 patients diagnosed as having GC were reviewed. Forty-nine and 32 patients were tested using the Oncomine Pan-Cancer Cell-Free Assay on the Ion Torrent platform and AlphaLiquid 100 kit on the Illumina platform, respectively.

Results: Tier I or II alterations were detected in 64.2% (52/81) of patients. Biomarkers for potential targeted therapy were detected in 55.6% of patients (45/81), and clinical trials are underway. ERBB2 amplification is actionable and was detected in 4.9% of patients (4/81). Among biomarkers showing potential for possible targeted therapy, TP53 mutation (38.3%, 35 variants in 31 patients, 31/81) and FGFR2 amplification (6.2%, 5/81) were detected the most.

Conclusions: Next-generation sequencing of cfDNA is a promising technique for the molecular profiling of GC. Evidence suggests that cfDNA analysis can provide accurate and reliable information on somatic genomic alterations in patients with GC, potentially replacing tissue biopsy as a diagnostic and prognostic tool. Through cfDNA analysis for molecular profiling, it may be possible to translate the molecular classification into therapeutic targets and predictive biomarkers, leading to personalized treatment options for patients with GC in the future.

用泛癌细胞游离DNA下一代测序法鉴定癌症患者潜在的基因组改变。
背景:分子癌症图谱可能导致分子靶向治疗的适当试验。无细胞DNA(cfDNA)是癌症(GC)的一种很有前途的诊断和/或预后生物标志物。我们对GC患者cfDNA的体细胞基因组变化进行了表征。方法:对81例胃癌患者的病历资料和cfDNA资料进行回顾性分析。分别使用Ion Torrent平台上的Oncomine Pan-Cancer Cell-Free Assay和Illumina平台上的AlphaLiquid 100试剂盒对49名和32名患者进行了测试。结果:64.2%(52/81)的患者检测到I或II级改变。55.6%的患者(45/81)检测到潜在靶向治疗的生物标志物,临床试验正在进行中。ERBB2扩增是可行的,在4.9%的患者中检测到(4/81)。在显示可能靶向治疗潜力的生物标志物中,检测到的TP53突变(38.3%,31名患者中有35种变体,31/81)和FGFR2扩增(6.2%,5/81)最多。结论:cfDNA的下一代测序是一种很有前途的GC分子图谱分析技术。有证据表明,cfDNA分析可以为GC患者的体细胞基因组改变提供准确可靠的信息,有可能取代组织活检作为诊断和预后工具。通过cfDNA分析进行分子图谱分析,可能将分子分类转化为治疗靶点和预测性生物标志物,从而为GC患者提供未来的个性化治疗选择。
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来源期刊
Annals of Laboratory Medicine
Annals of Laboratory Medicine MEDICAL LABORATORY TECHNOLOGY-
CiteScore
8.30
自引率
12.20%
发文量
100
审稿时长
6-12 weeks
期刊介绍: Annals of Laboratory Medicine is the official journal of Korean Society for Laboratory Medicine. The journal title has been recently changed from the Korean Journal of Laboratory Medicine (ISSN, 1598-6535) from the January issue of 2012. The JCR 2017 Impact factor of Ann Lab Med was 1.916.
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