Circulating Tumor DNA in Head and Neck Squamous Cell Carcinoma: Association with Metabolic Tumor Burden Determined with FDG-PET/CT

Antti Silvoniemi, Jukka Laine, Katri Aro, Linda Nissi, Leif Bäck, Jukka Schildt, Jussi Hirvonen, Jaana Hagström, Heikki Irjala, Leena Maija Aaltonen, Marko Seppänen, Heikki Minn

Research output: Contribution to journalArticleScientificpeer-review


Background: The detection of circulating tumor DNA (ctDNA) with next-generation sequencing (NGS) in venous blood is a promising tool for the genomic profiling of head and neck squamous cell carcinoma (HNSCC). The association between ctDNA findings and metabolic tumor burden detected with FDG-PET/CT imaging is of particular interest for developing prognostic and predictive algorithms in HNSCC. Methods: Twenty-six prospectively enrolled HNSCC patients were eligible for further analysis. All patients underwent tumor tissue and venous liquid biopsy sampling and FDG-PET/CT before definitive oncologic treatment. An NGS-based commercial panel was used for a genomic analysis of the samples. Results: Maximum variant allele frequency (VAF) in blood correlated positively with whole-body (WB) metabolic tumor volume (MTV) and total lesion glycolysis (TLG) (r = 0.510, p = 0.008 and r = 0.584, p = 0.002, respectively). A positive liquid biopsy was associated with high WB-TLG using VAF ≥ 1.00% or ≥5.00% as a cut-off value (p = 0.006 or p = 0.003, respectively). Additionally, ctDNA detection was associated with WB-TLG when only concordant variants detected in both ctDNA and tissue samples were considered. Conclusions: A high metabolic tumor burden based on FDG imaging is associated with a positive liquid biopsy and high maximum VAF. Our findings suggest a complementary role of metabolic and genomic signatures in the pre-treatment evaluation of HNSCC.

Original languageEnglish
Article number3970
Number of pages11
Issue number15
Publication statusPublished - Aug 2023
Publication typeA1 Journal article-refereed


  • cfDNA
  • circulating tumor DNA
  • ctDNA
  • head and neck cancer
  • liquid biopsy
  • metabolic tumor volume
  • next-generation sequencing
  • total lesion glycolysis
  • variant allele frequency

Publication forum classification

  • Publication forum level 1

ASJC Scopus subject areas

  • Oncology
  • Cancer Research


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