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Analysis of tumor mutational burden and mutational landscape comparing whole-exome sequencing and comprehensive genomic profiling in patients with resectable early-stage non-small-cell lung cancer
DC Field | Value | Language |
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dc.contributor.author | 이기쁨 | - |
dc.contributor.author | 임선민 | - |
dc.contributor.author | 조병철 | - |
dc.contributor.author | 홍민희 | - |
dc.contributor.author | 김재환 | - |
dc.date.accessioned | 2024-06-14T03:16:14Z | - |
dc.date.available | 2024-06-14T03:16:14Z | - |
dc.date.issued | 2024-01 | - |
dc.identifier.issn | 1758-8340 | - |
dc.identifier.uri | https://ir.ymlib.yonsei.ac.kr/handle/22282913/199821 | - |
dc.description.abstract | Background: Identifying actionable driver mutations via tissue-based comprehensive genomic profiling (CGP) is paramount in treatment decisions for metastatic non-squamous, non-small-cell lung cancer (NSCLC). However, the role of CGP remains elusive in resectable NSCLC. Here, we elucidate the feasibility of CGP in early-stage NSCLC Korean patients and compare the tumor mutational burden (TMB) and mutation landscape using three different platforms. Methods: All surgically resected NSCLC samples (N = 96) were analyzed to assess the concordance in TMB calculation and targetable mutations using whole-exome sequencing (WES) and TruSight Oncology 500 (TSO500). In all, 26 samples were analyzed with Foundation One CDx Assay (F1CDx). Programmed death-ligand 1 (PD-L1) expression was evaluated using Vectra Polaris. Results: Stage distribution post-surgery was 80% I (N = 77) and 20% II (N = 19). Ninety-nine percent (N = 95) were adenocarcinoma. The median TMB with WES and TSO500 was 1.6 and 4.7 mut/Mb, respectively (p < 0.05). Using all three platforms, the median TMB was 1.9, 5.5, and 4 mut/Mb for WES, TSO500, and F1CDx, respectively (p = 0.0048). Linear regression analysis of TMB values calculated between WES and TSO500 resulted in a concordance correlation coefficient of 0.83. For the PD-L1 tumor proportion score of <1% (negative, N = 18), 1-49% (low, N = 68), and ⩾50% (high, N = 10), the R2 values were 0.075, 0.79, and 0.95, respectively. The R2 values for TMB concordance were variable between the three platforms. Mutation landscape revealed EGFR mutation (51%, N = 49) as the most common actionable driver mutation, comprising L858R (N = 22), E19del (N = 20), and other non-common EGFR mutations (N = 7). Conclusion: TSO500 and F1CDx showed robust analytical performance for TMB assessment with TSO500 showing stronger concordance of TMB with high PD-L1 expression. As the paradigm for the management of early-resected NSCLC continues to evolve, understanding TMB and the mutation landscape may help advance clinical outcomes for this subset of patients. | - |
dc.description.statementOfResponsibility | open | - |
dc.format | application/pdf | - |
dc.language | English | - |
dc.publisher | Sage | - |
dc.relation.isPartOf | THERAPEUTIC ADVANCES IN MEDICAL ONCOLOGY | - |
dc.rights | CC BY-NC-ND 2.0 KR | - |
dc.title | Analysis of tumor mutational burden and mutational landscape comparing whole-exome sequencing and comprehensive genomic profiling in patients with resectable early-stage non-small-cell lung cancer | - |
dc.type | Article | - |
dc.contributor.college | College of Medicine (의과대학) | - |
dc.contributor.department | Dept. of Internal Medicine (내과학교실) | - |
dc.contributor.googleauthor | Su-Jin Choi | - |
dc.contributor.googleauthor | Jii Bum Lee | - |
dc.contributor.googleauthor | Jae Hwan Kim | - |
dc.contributor.googleauthor | Min Hee Hong | - |
dc.contributor.googleauthor | Byoung Chul Cho | - |
dc.contributor.googleauthor | Sun Min Lim | - |
dc.identifier.doi | 10.1177/17588359241240657 | - |
dc.contributor.localId | A05930 | - |
dc.contributor.localId | A03369 | - |
dc.contributor.localId | A03822 | - |
dc.contributor.localId | A04393 | - |
dc.relation.journalcode | J02720 | - |
dc.identifier.eissn | 1758-8359 | - |
dc.identifier.pmid | 38523846 | - |
dc.subject.keyword | PD-L1 | - |
dc.subject.keyword | comprehensive genomic profiling | - |
dc.subject.keyword | early stage | - |
dc.subject.keyword | non-small-cell lung cancer | - |
dc.subject.keyword | tumor mutation burden | - |
dc.contributor.alternativeName | Lee, Jii Bum | - |
dc.contributor.affiliatedAuthor | 이기쁨 | - |
dc.contributor.affiliatedAuthor | 임선민 | - |
dc.contributor.affiliatedAuthor | 조병철 | - |
dc.contributor.affiliatedAuthor | 홍민희 | - |
dc.citation.volume | 16 | - |
dc.citation.startPage | 1.75884E+16 | - |
dc.identifier.bibliographicCitation | THERAPEUTIC ADVANCES IN MEDICAL ONCOLOGY, Vol.16 : 1.75884E+16, 2024-01 | - |
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