Differences in tumor mutational burden assessment: a national ring trial

Authors

  • Christine Federspiel Secher Department of Oncology, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark https://orcid.org/0000-0002-4468-4761
  • Christina Westmose Yde Department of Genomic Medicine, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark
  • Britt Elmedal Laursen Department of Molecular Medicine, Aarhus University Hospital, Aarhus, Denmark; Department of Oncology, Aarhus University Hospital, Aarhus, Denmark
  • Estrid Høgdall Molecular Unit, Department of Pathology, Herlev & Gentofte University Hospital, Herlev, Denmark; Institute of Clinical Medicine, University of Copenhagen Faculty of Health and Medical Sciences, Copenhagen, Denmark
  • Henriette Sylvain Thomsen Department of Molecular Medicine, Aarhus University Hospital, Aarhus, Denmark
  • Tim Svenstrup Poulsen Molecular Unit, Department of Pathology, Herlev & Gentofte University Hospital, Herlev, Denmark
  • Mads Sønderkær Department of Molecular Diagnostics, Aalborg University Hospital, Aalborg, Denmark
  • Tina Kringelbach Department of Oncology, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark
  • Mads Malik Aagaard Jørgensen Department of Clinical Genetics, Vejle Hospital, Vejle, Denmark
  • Rikke Frydendahl Sick Olsen Department of Pathology, Odense University Hospital, Odense, Denmark
  • Anja Elaine Sørensen Department of Pathology, Zealand University Hospital, Roskilde, Denmark
  • Christian Baudet Department of Genomic Medicine, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark
  • Magnús Halldór Gíslason Department of Genomic Medicine, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark
  • Michael Knudsen Department of Molecular Medicine, Aarhus University Hospital, Aarhus, Denmark
  • Ida Kappel Buhl Department of Genomic Medicine, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark https://orcid.org/0000-0003-3299-1358

DOI:

https://doi.org/10.2340/1651-226X.2026.45220

Keywords:

Tumor mutational burden, immune checkpoint inhibitors, high-throughput nucleotide sequencing, whole genome sequencing, targeted exome sequencing

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References

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Samstein RM, Lee CH, Shoushtari AN, Hellmann MD, Shen R, Janjigian YY, et al. Tumor mutational load predicts survival after immunotherapy across multiple cancer types. Nat Genet. 2019; 51:202–206.

https://doi.org/10.1038/s41588-018-0312-8 DOI: https://doi.org/10.1038/s41588-018-0312-8

Hellmann MD, Ciuleanu T-E, Pluzanski A, Lee JS, Otterson GA, Audigier-Valette C, et al. Nivolumab plus ipilimumab in lung cancer with a high tumor mutational burden. N Engl J Med. 2018;378(22): 2093–2104.

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Marcus L, Fashoyin-Aje LA, Donoghue M, Yuan M, Rodriguez L, Gallagher PS, et al. FDA approval summary: pembrolizumab for the treatment of tumor mutational burden–high solid tumors. Clin Cancer Res. 2021;27(17): 4685–4689.

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Kringelbach T, Højgaard M, Rohrberg K, Spanggaard I, Laursen BE, Ladekarl M, et al. ProTarget: a Danish Nationwide Clinical Trial on Targeted Cancer Treatment based on genomic profiling – a national, phase 2, prospective, multi-drug, non-randomized, open-label basket trial. BMC Cancer. 2023;23:182.

https://doi.org/10.1186/s12885-023-10632-9 DOI: https://doi.org/10.1186/s12885-023-10632-9

Benjamin D, Sato T, Cibulskis K, Getz G, Stewart C, Lichtenstein L. Calling somatic SNVs and indels with Mutect2. bioRxiv. 2019. bioRxiv 861054. DOI: https://doi.org/10.1101/861054

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Kim S, Scheffler K, Halpern AL, Bekritsky MA, Noh E, Källberg M, et al. Strelka2: fast and accurate calling of germline and somatic variants. Nat Methods. 2018;15(8):591–594.

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Furtado L V., Bifulco C, Dolderer D, Hsiao SJ, Kipp BR, Lindeman NI, et al. Recommendations for tumor mutational burden assay validation and reporting: a joint consensus recommendation of the Association for Molecular Pathology, College of American Pathologists, and Society for Immunotherapy of Cancer. J Mol Diagn. 2024;26(8):653–68.

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Vega DM, Yee LM, McShane LM, Williams PM, Chen L, Vilimas T, et al. Aligning tumor mutational burden (TMB) quantification across diagnostic platforms: phase II of the Friends of Cancer Research TMB Harmonization Project. Ann Oncol. 2021;32(12):1626–1636.

https://doi.org/10.1016/j.annonc.2021.09.016 DOI: https://doi.org/10.1016/j.annonc.2021.09.016

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Published

2026-03-04

How to Cite

Federspiel Secher, C., Westmose Yde, C., Elmedal Laursen, B., Høgdall, E., Sylvain Thomsen, H., Svenstrup Poulsen, T., … Ida Kappel Buhl. (2026). Differences in tumor mutational burden assessment: a national ring trial. Acta Oncologica, 65, 178–180. https://doi.org/10.2340/1651-226X.2026.45220

Issue

Vol. 65 (2026): Acta Oncologica

Section

Letter

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Copyright (c) 2026 Christine Federspiel Secher, Christina Westmose Yde, Britt Elmedal Laursen, Estrid l Høgdall, Henriette Sylvain Thomsen, Tim Svenstrup Poulsen, Mads Sønderkær, Tina Kringelbach, Mads Malik Aagaard Jørgensen, Rikke Frydendahl Sick Olsen, Anja Elaine Sørensen, Christian Baudet, Magnús Halldór Gíslason, Michael Knudsen, Ida Kappel Buhl

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This work is licensed under a Creative Commons Attribution 4.0 International License.