TY - JOUR
T1 - Circulating Tumor DNA in Head and Neck Squamous Cell Carcinoma
T2 - Association with Metabolic Tumor Burden Determined with FDG-PET/CT
AU - Silvoniemi, Antti
AU - Laine, Jukka
AU - Aro, Katri
AU - Nissi, Linda
AU - Bäck, Leif
AU - Schildt, Jukka
AU - Hirvonen, Jussi
AU - Hagström, Jaana
AU - Irjala, Heikki
AU - Aaltonen, Leena Maija
AU - Seppänen, Marko
AU - Minn, Heikki
N1 - Funding Information:
This study was supported by The Finnish Medical Foundation, The Finnish ORL-HNS Foundation, The Cancer Society of Finland, Finnish Government Research Funds, and Helsinki University Research Funds.
Publisher Copyright:
© 2023 by the authors.
PY - 2023/8
Y1 - 2023/8
N2 - 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.
AB - 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.
KW - cfDNA
KW - circulating tumor DNA
KW - ctDNA
KW - FDG-PET/CT
KW - head and neck cancer
KW - liquid biopsy
KW - metabolic tumor volume
KW - next-generation sequencing
KW - total lesion glycolysis
KW - variant allele frequency
U2 - 10.3390/cancers15153970
DO - 10.3390/cancers15153970
M3 - Article
AN - SCOPUS:85167828295
SN - 2072-6694
VL - 15
JO - Cancers
JF - Cancers
IS - 15
M1 - 3970
ER -
