Division of Biotechnology, Invites BioCore Co. Ltd., Yongin, Korea.
Genome Service Development, Invites Genomics Co. Ltd., Jeju, Korea.
Ann Lab Med. 2024 Mar 1;44(2):164-173. doi: 10.3343/alm.2023.0187. Epub 2023 Oct 30.
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.
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.
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. amplification is actionable and was detected in 4.9% of patients (4/81). Among biomarkers showing potential for possible targeted therapy, mutation (38.3%, 35 variants in 31 patients, 31/81) and amplification (6.2%, 5/81) were detected the most.
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.
分子癌症分析可能会导致适当的分子靶向治疗试验。循环游离 DNA（cfDNA）是胃癌（GC）有前途的诊断和/或预后生物标志物。我们对 GC 患者 cfDNA 中的体细胞基因组改变进行了特征描述。
回顾了 81 例诊断为 GC 的患者的病历和 cfDNA 数据。49 例和 32 例患者分别使用 Ion Torrent 平台上的 Oncomine Pan-Cancer Cell-Free Assay 和 Illumina 平台上的 AlphaLiquid 100 试剂盒进行了检测。
64.2%（52/81）的患者检测到 I 级或 II 级改变。在 55.6%的患者（45/81）中检测到潜在靶向治疗的生物标志物，并且正在进行临床试验。 扩增是可操作的，在 4.9%的患者（4/81）中检测到。在显示可能有针对性治疗潜力的生物标志物中， 突变（38.3%，31 例患者中有 35 个变异，31/81）和 扩增（6.2%，5/81）最为常见。
cfDNA 的下一代测序是 GC 分子分析的一种很有前途的技术。有证据表明，cfDNA 分析可以为 GC 患者体细胞基因组改变提供准确可靠的信息，可能替代组织活检作为诊断和预后工具。通过 cfDNA 分析进行分子分析，可能将分子分类转化为治疗靶点和预测生物标志物，为未来的 GC 患者提供个性化的治疗选择。
