Circulating tumor DNA detection in head and neck cancer: evaluation of two different detection approaches

Sandra Perdomo, Patrice H Avogbe, Matthieu Foll, Behnoush Abedi-Ardekani, Violeta Lescher Facciolla, Devasena Anantharaman, Priscilia Chopard, Florence Le Calvez-Kelm, Marta Vilensky, Jerry Polesel, Ivana Holcatova, Lorenzo Simonato, Cristina Canova, Pagona Lagiou, James D McKay, Paul Brennan

Research output: Contribution to journalArticlepeer-review


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 ofTP53mutations 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 theTP53gene resulted in identification ofTP53mutations 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 pathogenicTP53mutations 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.

Original languageEnglish
Pages (from-to)72621-72632
Number of pages12
Issue number42
Publication statusPublished - Sep 22 2017


  • Journal Article


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