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

Authors
 Boyeon Kim  ;  Yoonjung Kim  ;  Jae Yong Cho  ;  Kyung-A Lee 
Citation
 ANNALS OF LABORATORY MEDICINE, Vol.44(2) : 164-173, 2024-03 
Journal Title
ANNALS OF LABORATORY MEDICINE
ISSN
 2234-3806 
Issue Date
2024-03
MeSH
Biomarkers ; Biomarkers, Tumor / genetics ; Cell-Free Nucleic Acids* / genetics ; Genomics / methods ; High-Throughput Nucleotide Sequencing / methods ; Humans ; Mutation ; Stomach Neoplasms* / diagnosis ; Stomach Neoplasms* / genetics
Keywords
Biomarkers ; Cell-free nucleic acids ; Diagnostics ; Genomics ; High-throughput nucleotide sequencing ; Mutation ; Stomach neoplasm
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.
Files in This Item:
T202306372.pdf Download
DOI
10.3343/alm.2023.0187
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Internal Medicine (내과학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Laboratory Medicine (진단검사의학교실) > 1. Journal Papers
Yonsei Authors
Kim, Yoon Jung(김윤정) ORCID logo https://orcid.org/0000-0002-4370-4265
Lee, Kyung A(이경아) ORCID logo https://orcid.org/0000-0001-5320-6705
Cho, Jae Yong(조재용) ORCID logo https://orcid.org/0000-0002-0926-1819
URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/198125
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