Display options
Cite
Fenizia F, Alborelli I, Costa JL, et al. Validation of a Targeted Next-Generation Sequencing Panel for Tumor Mutation Burden Analysis: Results from the Onconetwork Immuno-Oncology Consortium. J Mol Diagn. 2021;23(7):882-893doi: 10.1016/j.jmoldx.2021.04.008.
Fenizia, F., Alborelli, I., Costa, J. L., Vollbrecht, C., Bellosillo, B., Dinjens, W., Endris, V., Heydt, C., Leonards, K., Merkelback-Bruse, S., Pfarr, N., van Marion, R., Allen, C., Chaudhary, R., Gottimukkala, R., Hyland, F., Wong-Ho, E., Jermann, P., Machado, J. C., Hummel, M., Stenzinger, A., & Normanno, N. (2021). Validation of a Targeted Next-Generation Sequencing Panel for Tumor Mutation Burden Analysis: Results from the Onconetwork Immuno-Oncology Consortium. The Journal of molecular diagnostics : JMD, 23(7), 882-893. https://doi.org/10.1016/j.jmoldx.2021.04.008
Fenizia, Francesca, et al. "Validation of a Targeted Next-Generation Sequencing Panel for Tumor Mutation Burden Analysis: Results from the Onconetwork Immuno-Oncology Consortium." The Journal of molecular diagnostics : JMD vol. 23,7 (2021): 882-893. doi: https://doi.org/10.1016/j.jmoldx.2021.04.008
Fenizia F, Alborelli I, Costa JL, Vollbrecht C, Bellosillo B, Dinjens W, Endris V, Heydt C, Leonards K, Merkelback-Bruse S, Pfarr N, van Marion R, Allen C, Chaudhary R, Gottimukkala R, Hyland F, Wong-Ho E, Jermann P, Machado JC, Hummel M, Stenzinger A, Normanno N. Validation of a Targeted Next-Generation Sequencing Panel for Tumor Mutation Burden Analysis: Results from the Onconetwork Immuno-Oncology Consortium. J Mol Diagn. 2021 Jul;23(7):882-893. doi: 10.1016/j.jmoldx.2021.04.008. Epub 2021 May 06. PMID: 33964449.
Copy Download .nbib Format: NLM
Share it on

J Mol Diagn. 2021 Jul;23(7):882-893. doi: 10.1016/j.jmoldx.2021.04.008. Epub 2021 May 06.

Validation of a Targeted Next-Generation Sequencing Panel for Tumor Mutation Burden Analysis: Results from the Onconetwork Immuno-Oncology Consortium.

The Journal of molecular diagnostics : JMD

Francesca Fenizia, Ilaria Alborelli, Jose Luis Costa, Claudia Vollbrecht, Beatriz Bellosillo, Winand Dinjens, Volker Endris, Carina Heydt, Katharina Leonards, Sabine Merkelback-Bruse, Nicole Pfarr, Ronald van Marion, Christopher Allen, Ruchi Chaudhary, Rajesh Gottimukkala, Fiona Hyland, Elaine Wong-Ho, Philip Jermann, Jose Carlos Machado, Michael Hummel, Albrecht Stenzinger, Nicola Normanno

Affiliations

  1. Cell Biology and Biotherapy Unit, Istituto Nazionale Tumori-IRCCS-Fondazione G. Pascale, Naples, Italy.
  2. Institute of Medical Genetics and Pathology, University Hospital Basel, Basel, Switzerland.
  3. Institute of Molecular Pathology and Immunology of the University of Porto, Porto, Portugal.
  4. Charité-Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Institute of Pathology, Berlin, Germany.
  5. Servei de Patologia, Hospital del Mar, Barcelona, Spain.
  6. Department of Pathology, Erasmus MC Cancer Institute, University Medical Center, Rotterdam, the Netherlands.
  7. Institute of Pathology, University Hospital Heidelberg, Heidelberg, Germany.
  8. Institute of Pathology, University Hospital Cologne, Cologne, France.
  9. Institute of Pathology, Technical University Munich, Munich, Germany.
  10. Clinical Next-Generation Sequencing Division, Thermo Fisher Scientific, Waltham, Massachusetts.
  11. Cell Biology and Biotherapy Unit, Istituto Nazionale Tumori-IRCCS-Fondazione G. Pascale, Naples, Italy. Electronic address: [email protected].

PMID: 33964449 DOI: 10.1016/j.jmoldx.2021.04.008

Abstract

Tumor mutation burden (TMB) is evaluated as a biomarker of response to immunotherapy. We present the efforts of the Onconetwork Immuno-Oncology Consortium to validate a commercial targeted sequencing test for TMB calculation. A three-phase study was designed to validate the Oncomine Tumor Mutational Load (OTML) assay at nine European laboratories. Phase 1 evaluated reproducibility and accuracy on seven control samples. In phase 2, six formalin-fixed, paraffin-embedded samples tested with FoundationOne were reanalyzed with the OTML panel to evaluate concordance and reproducibility. Phase 3 involved analysis of 90 colorectal cancer samples with known microsatellite instability (MSI) status to evaluate TMB and MSI association. High reproducibility of TMB was demonstrated among the sites in the first and second phases. Strong correlation was also detected between mean and expected TMB in phase 1 (r

Copyright © 2021 Association for Molecular Pathology and American Society for Investigative Pathology. Published by Elsevier Inc. All rights reserved.

Publication Types