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Somatic mutations in tumor and plasma of locoregional recurrent and/or metastatic head and neck cancer using a next‐generation sequencing panel: A preliminary study

BACKGROUND: We explore the utility of TruSight Tumor 170 panel (TST170) for detecting somatic mutations in tumor and cfDNA from locoregional recurrent and/or metastatic head and neck squamous cell carcinoma (HNSCC). METHODS: Targeted NGS of tumor DNA and plasma cfDNA was performed using TST170 panel...

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Autores principales: Rapado‐González, Óscar, Brea‐Iglesias, Jenifer, Rodríguez‐Casanova, Aitor, Bao‐Caamano, Aida, López‐Cedrún, José‐Luis, Triana‐Martínez, Gabriel, Díaz‐Peña, Roberto, Santos, María Arminda, López‐López, Rafael, Muinelo‐Romay, Laura, Martínez‐Fernández, Mónica, Díaz‐Lagares, Ángel, Suárez‐Cunqueiro, María Mercedes
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10067107/
https://www.ncbi.nlm.nih.gov/pubmed/36420687
http://dx.doi.org/10.1002/cam4.5436
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author Rapado‐González, Óscar
Brea‐Iglesias, Jenifer
Rodríguez‐Casanova, Aitor
Bao‐Caamano, Aida
López‐Cedrún, José‐Luis
Triana‐Martínez, Gabriel
Díaz‐Peña, Roberto
Santos, María Arminda
López‐López, Rafael
Muinelo‐Romay, Laura
Martínez‐Fernández, Mónica
Díaz‐Lagares, Ángel
Suárez‐Cunqueiro, María Mercedes
author_facet Rapado‐González, Óscar
Brea‐Iglesias, Jenifer
Rodríguez‐Casanova, Aitor
Bao‐Caamano, Aida
López‐Cedrún, José‐Luis
Triana‐Martínez, Gabriel
Díaz‐Peña, Roberto
Santos, María Arminda
López‐López, Rafael
Muinelo‐Romay, Laura
Martínez‐Fernández, Mónica
Díaz‐Lagares, Ángel
Suárez‐Cunqueiro, María Mercedes
author_sort Rapado‐González, Óscar
collection PubMed
description BACKGROUND: We explore the utility of TruSight Tumor 170 panel (TST170) for detecting somatic mutations in tumor and cfDNA from locoregional recurrent and/or metastatic head and neck squamous cell carcinoma (HNSCC). METHODS: Targeted NGS of tumor DNA and plasma cfDNA was performed using TST170 panel. In addition, a set of somatic mutations previously described in HNSCC were selected for validating in tumor, plasma, and saliva by digital droplet PCR. RESULTS: The TST170 panel identified 13 non‐synonymous somatic mutations, of which five were detected in tumoral tissue, other five in plasma cfDNA, and three in both tissue and plasma cfDNA. Of the eight somatic mutations identified in tissue, three were also identified in plasma cfDNA, showing an overall concordance rate of 37.5%. CONCLUSIONS: This preliminary study shows the possibility to detect somatic mutations in tumor and plasma of HNSCC patients using a single assay that would facilitate the clinical implementation of personalized medicine in the clinic.
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spelling pubmed-100671072023-04-03 Somatic mutations in tumor and plasma of locoregional recurrent and/or metastatic head and neck cancer using a next‐generation sequencing panel: A preliminary study Rapado‐González, Óscar Brea‐Iglesias, Jenifer Rodríguez‐Casanova, Aitor Bao‐Caamano, Aida López‐Cedrún, José‐Luis Triana‐Martínez, Gabriel Díaz‐Peña, Roberto Santos, María Arminda López‐López, Rafael Muinelo‐Romay, Laura Martínez‐Fernández, Mónica Díaz‐Lagares, Ángel Suárez‐Cunqueiro, María Mercedes Cancer Med RESEARCH ARTICLES BACKGROUND: We explore the utility of TruSight Tumor 170 panel (TST170) for detecting somatic mutations in tumor and cfDNA from locoregional recurrent and/or metastatic head and neck squamous cell carcinoma (HNSCC). METHODS: Targeted NGS of tumor DNA and plasma cfDNA was performed using TST170 panel. In addition, a set of somatic mutations previously described in HNSCC were selected for validating in tumor, plasma, and saliva by digital droplet PCR. RESULTS: The TST170 panel identified 13 non‐synonymous somatic mutations, of which five were detected in tumoral tissue, other five in plasma cfDNA, and three in both tissue and plasma cfDNA. Of the eight somatic mutations identified in tissue, three were also identified in plasma cfDNA, showing an overall concordance rate of 37.5%. CONCLUSIONS: This preliminary study shows the possibility to detect somatic mutations in tumor and plasma of HNSCC patients using a single assay that would facilitate the clinical implementation of personalized medicine in the clinic. John Wiley and Sons Inc. 2022-11-24 /pmc/articles/PMC10067107/ /pubmed/36420687 http://dx.doi.org/10.1002/cam4.5436 Text en © 2022 The Authors. Cancer Medicine published by John Wiley & Sons Ltd. https://creativecommons.org/licenses/by/4.0/This is an open access article under the terms of the http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
spellingShingle RESEARCH ARTICLES
Rapado‐González, Óscar
Brea‐Iglesias, Jenifer
Rodríguez‐Casanova, Aitor
Bao‐Caamano, Aida
López‐Cedrún, José‐Luis
Triana‐Martínez, Gabriel
Díaz‐Peña, Roberto
Santos, María Arminda
López‐López, Rafael
Muinelo‐Romay, Laura
Martínez‐Fernández, Mónica
Díaz‐Lagares, Ángel
Suárez‐Cunqueiro, María Mercedes
Somatic mutations in tumor and plasma of locoregional recurrent and/or metastatic head and neck cancer using a next‐generation sequencing panel: A preliminary study
title Somatic mutations in tumor and plasma of locoregional recurrent and/or metastatic head and neck cancer using a next‐generation sequencing panel: A preliminary study
title_full Somatic mutations in tumor and plasma of locoregional recurrent and/or metastatic head and neck cancer using a next‐generation sequencing panel: A preliminary study
title_fullStr Somatic mutations in tumor and plasma of locoregional recurrent and/or metastatic head and neck cancer using a next‐generation sequencing panel: A preliminary study
title_full_unstemmed Somatic mutations in tumor and plasma of locoregional recurrent and/or metastatic head and neck cancer using a next‐generation sequencing panel: A preliminary study
title_short Somatic mutations in tumor and plasma of locoregional recurrent and/or metastatic head and neck cancer using a next‐generation sequencing panel: A preliminary study
title_sort somatic mutations in tumor and plasma of locoregional recurrent and/or metastatic head and neck cancer using a next‐generation sequencing panel: a preliminary study
topic RESEARCH ARTICLES
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10067107/
https://www.ncbi.nlm.nih.gov/pubmed/36420687
http://dx.doi.org/10.1002/cam4.5436
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