ArticleCancer science2024
Leveraging non-coding regions to guarantee the accuracy of small-sized panel-based tumor mutational burden estimates.
Article in Cancer science, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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Who cites it
3 citing papers in PubMed.
- Tumor Cell Count and Total Cell Count as Surrogate Indicators of Comprehensive Genomic Profiling Success in Pancreatic Cancer Specimens Collected by Endoscopic Ultrasonography-Guided Tissue Acquisition.Journal of hepato-biliary-pancreatic sciences · 2026Article
- Refining Tumor Mutational Burden as a Predictive Biomarker for Pembrolizumab: A Real-World Analysis in Japanese Patients.Cancer science · 2026Article
- Leveraging non-coding regions to guarantee the accuracy of small-sized panel-based tumor mutational burden estimates.Cancer science · 2024Article
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Authors and funding
11 authors.
Funding
Abstract
Accurate estimation of tumor mutational burden (TMB) as a predictor of responsiveness to immune checkpoint inhibitors in gene panel assays requires an adequate panel size. The current calculations of TMB only consider coding regions, while most of gene panel assays interrogate non-coding regions. Leveraging the non-coding regions is a potential solution to address this panel size limitation. However, the impact of including non-coding regions on the accuracy of TMB estimates remains unclear. This study investigated the validity of leveraging non-coding regions to supplement panel size using the OncoGuide NCC Oncopanel System (NOP). The aim of this study was to evaluate test performance against orthogonal assays and the association with responsiveness to immune checkpoint inhibitors was not included in the evaluation. We compared TMB status and values between TMB calculated only from coding regions (NOP-coding) and from both coding and non-coding regions (NOP-overall) using whole exome sequencing (WES) and FoundationOne®CDx (F1CDx) assay. Our findings revealed that NOP-overall significantly improved the overall percent agreement (OPA) with TMB status compared with NOP-coding for both WES (OPA: 96.7% vs. 73.3%, n = 30) and F1CDx (OPA: 90.0% vs. 73.3%). Additionally, the mean difference in TMB values compared with WES was lower for NOP-overall (3.55 [95% CI: 0.98-6.13]) than for NOP-coding (6.22 [95% CI: 3.73-8.70]). These results exemplify the utility of incorporating non-coding regions to maintain accurate TMB estimates in small-sized panels.
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Registered trials
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