Circulating tumor DNA detection in head and neck cancer: evaluation of two different detection approaches
Abstract
// Sandra Perdomo 1, 2, * , Patrice H. Avogbe 1, * , Matthieu Foll 1 , Behnoush Abedi-Ardekani 1 , Violeta Lescher Facciolla 3 , Devasena Anantharaman 1,9 , Priscilia Chopard 1 , Florence Le Calvez-Kelm 1 , Marta Vilensky 4 , Jerry Polesel 5 , Ivana Holcatova 6 , Lorenzo Simonato 7 , Cristina Canova 7 , Pagona Lagiou 8 , James D. McKay 1 and Paul Brennan 1 1 International Agency for Research on Cancer (IARC), Lyon 69372, France 2 Institute of Nutrition, Genetics and Metabolism Research, Faculty of Medicine, Universidad El Bosque, Bogotá 110121, Colombia 3 Departamento de Saúde Coletiva, Faculdade de Ciências Médicas da Santa Casa de São Paulo, São Paulo CEP01221-020, Brazil 4 Instituto Angel Roffo, Buenos Aires C1417DTB, Argentina 5 CRO Aviano National Cancer Institute, Aviano 33081, Italy 6 Charles University, 1st Faculty of Medicine, Prague 116 36, Czech Republic 7 Laboratory of Public Health and Population Studies, University of Padova, Padova 35122, Italy 8 Department of Hygiene, Epidemiology and Medical Statistics, School of Medicine, National and Kapodistrian University of Athens, Athens 11527, Greece 9 Current/present address: Rajiv Gandhi Centre for Biotechnology, Trivandrum 695010, India * These authors have contributed equally to this work Correspondence to: Paul Brennan, email: [email protected] Keywords: ctDNA, head and neck, cancer, mutation, detection Abbreviations: cfDNA: cell free DNA; ctDNA: circulating tumor DNA; HNSCC: head and neck squamous cell carcinoma; AF: allelic frequency Received: April 27, 2017 Accepted: July 12, 2017 Published: August 07, 2017 ABSTRACT The use of non-invasive biomarkers such as circulating tumor DNA (ctDNA) in head and neck tumors may be of relevance in early diagnosis and eventually improved outcome. We evaluated two different approaches from two case series in Europe and South America including (i) targeted screening of ctDNA mutations, and (ii) detection of TP53 mutations in plasma and oral rinses without previous knowledge of mutational status in tumor samples. Targeted sequencing in 5 genes identified ctDNA mutations in plasma among 42% of HNSCC cases, 67% of who were early stage cases. No association was found between ctDNA mutation detection and overall survival. Sequencing of the entire coding region of the TP53 gene resulted in identification of TP53 mutations in 76% of tumor cases. However, concordance of mutation detection was low between tumor, oral rinses (11%) and plasma (2,7%) samples. Identification of 5 pathogenic TP53 mutations in oral rinses from 3 non-cancer controls gives additional evidence of mutation occurrence in individuals without a diagnosed cancer and presents an additional challenge for the development of ctDNA diagnostic assays.
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BibTeX
@article{perdomo2026circulating,
title = {{Circulating tumor DNA detection in head and neck cancer: evaluation of two different detection approaches}},
author = {Sandra Perdomo and Patrice H Avogbe and Matthieu Foll and Behnoush Abedi-Ardekani and Violeta Lescher Facciolla and Devasena Anantharaman and Priscilia Chopard and Florence Le Calvez-Kelm and Marta Vilensky and Jerry Polesel and Ivana Holcatova and Lorenzo Simonato and Cristina Canova and Pagona Lagiou and James D Mckay and Paul Brennan},
journal = {Oncotarget},
year = {2026},
month = oct,
doi = {10.18632/oncotarget.20004},
url = {https://hal.science/hal-05842803v1},
note = {CC BY},
}
RIS
TY - JOUR
TI - Circulating tumor DNA detection in head and neck cancer: evaluation of two different detection approaches
AU - Sandra Perdomo
AU - Patrice H Avogbe
AU - Matthieu Foll
AU - Behnoush Abedi-Ardekani
AU - Violeta Lescher Facciolla
AU - Devasena Anantharaman
AU - Priscilia Chopard
AU - Florence Le Calvez-Kelm
AU - Marta Vilensky
AU - Jerry Polesel
AU - Ivana Holcatova
AU - Lorenzo Simonato
AU - Cristina Canova
AU - Pagona Lagiou
AU - James D Mckay
AU - Paul Brennan
PY - 2026
DA - 2026/10/28
JO - Oncotarget
DO - 10.18632/oncotarget.20004
UR - https://hal.science/hal-05842803v1
AB - // Sandra Perdomo 1, 2, * , Patrice H. Avogbe 1, * , Matthieu Foll 1 , Behnoush Abedi-Ardekani 1 , Violeta Lescher Facciolla 3 , Devasena Anantharaman 1,9 , Priscilia Chopard 1 , Florence Le Calvez-Kelm 1 , Marta Vilensky 4 , Jerry Polesel 5 , Ivana Holcatova 6 , Lorenzo Simonato 7 , Cristina Canova 7 , Pagona Lagiou 8 , James D. McKay 1 and Paul Brennan 1 1 International Agency for Research on Cancer (IARC), Lyon 69372, France 2 Institute of Nutrition, Genetics and Metabolism Research, Faculty of Medicine, Universidad El Bosque, Bogotá 110121, Colombia 3 Departamento de Saúde Coletiva, Faculdade de Ciências Médicas da Santa Casa de São Paulo, São Paulo CEP01221-020, Brazil 4 Instituto Angel Roffo, Buenos Aires C1417DTB, Argentina 5 CRO Aviano National Cancer Institute, Aviano 33081, Italy 6 Charles University, 1st Faculty of Medicine, Prague 116 36, Czech Republic 7 Laboratory of Public Health and Population Studies, University of Padova, Padova 35122, Italy 8 Department of Hygiene, Epidemiology and Medical Statistics, School of Medicine, National and Kapodistrian University of Athens, Athens 11527, Greece 9 Current/present address: Rajiv Gandhi Centre for Biotechnology, Trivandrum 695010, India * These authors have contributed equally to this work Correspondence to: Paul Brennan, email: [email protected] Keywords: ctDNA, head and neck, cancer, mutation, detection Abbreviations: cfDNA: cell free DNA; ctDNA: circulating tumor DNA; HNSCC: head and neck squamous cell carcinoma; AF: allelic frequency Received: April 27, 2017 Accepted: July 12, 2017 Published: August 07, 2017 ABSTRACT The use of non-invasive biomarkers such as circulating tumor DNA (ctDNA) in head and neck tumors may be of relevance in early diagnosis and eventually improved outcome. We evaluated two different approaches from two case series in Europe and South America including (i) targeted screening of ctDNA mutations, and (ii) detection of TP53 mutations in plasma and oral rinses without previous knowledge of mutational status in tumor samples. Targeted sequencing in 5 genes identified ctDNA mutations in plasma among 42% of HNSCC cases, 67% of who were early stage cases. No association was found between ctDNA mutation detection and overall survival. Sequencing of the entire coding region of the TP53 gene resulted in identification of TP53 mutations in 76% of tumor cases. However, concordance of mutation detection was low between tumor, oral rinses (11%) and plasma (2,7%) samples. Identification of 5 pathogenic TP53 mutations in oral rinses from 3 non-cancer controls gives additional evidence of mutation occurrence in individuals without a diagnosed cancer and presents an additional challenge for the development of ctDNA diagnostic assays.
SN - 1949-2553
ER -