Silvoniemi Antti, Laine Jukka, Aro Katri, Nissi Linda, Bäck Leif, Schildt Jukka, Hirvonen Jussi, Hagström Jaana, Irjala Heikki, Aaltonen Leena-Maija, Seppänen Marko, Minn Heikki
Department of Otorhinolaryngology-Head and Neck Surgery, Turku University Hospital, University of Turku, FI-20521 Turku, Finland.
Turku PET Centre, University of Turku, FI-20521 Turku, Finland.
Cancers (Basel). 2023 Aug 4;15(15):3970. doi: 10.3390/cancers15153970.
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.
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.
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, = 0.008 and r = 0.584, = 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 ( = 0.006 or = 0.003, respectively). Additionally, ctDNA detection was associated with WB-TLG when only concordant variants detected in both ctDNA and tissue samples were considered.
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.
采用下一代测序(NGS)技术检测静脉血中的循环肿瘤DNA(ctDNA),是对头颈部鳞状细胞癌(HNSCC)进行基因组分析的一种很有前景的工具。ctDNA检测结果与通过FDG-PET/CT成像检测到的代谢肿瘤负荷之间的关联,对于开发HNSCC的预后和预测算法尤为重要。
26例前瞻性入组的HNSCC患者符合进一步分析的条件。所有患者在确定性肿瘤治疗前均接受了肿瘤组织和静脉液体活检采样以及FDG-PET/CT检查。使用基于NGS的商业检测板对样本进行基因组分析。
血液中的最大变异等位基因频率(VAF)与全身(WB)代谢肿瘤体积(MTV)和总病灶糖酵解(TLG)呈正相关(分别为r = 0.510,P = 0.008和r = 0.584,P = 0.002)。以VAF≥1.00%或≥5.00%为临界值时,液体活检呈阳性与高WB-TLG相关(分别为P = 0.006或P = 0.003)。此外,当仅考虑在ctDNA和组织样本中均检测到的一致性变异时,ctDNA检测与WB-TLG相关。
基于FDG成像的高代谢肿瘤负荷与液体活检阳性和高最大VAF相关。我们的研究结果表明,代谢和基因组特征在HNSCC的治疗前评估中具有互补作用。