液体活检
头颈部鳞状细胞癌
一致性
医学
活检
头颈部癌
肿瘤科
原发性肿瘤
癌症研究
病理
胎儿游离DNA
内科学
癌症
转移
生物
胎儿
产前诊断
怀孕
遗传学
作者
Rachel Galot,Cédric van Marcke,Raphaël Helaers,Antonella Mendola,Rose‐Marie Goebbels,Xavier Caignet,Jérôme Ambroise,Kyril Wittouck,Miikka Vikkula,Nisha Limaye,Jean‐Pascal Machiels
出处
期刊:Oral Oncology
[Elsevier]
日期:2020-05-01
卷期号:104: 104631-104631
被引量:46
标识
DOI:10.1016/j.oraloncology.2020.104631
摘要
The molecular landscape of head and neck squamous cell carcinoma (HNSCC) harbors potentially actionable genomic alterations. We aimed to study the utility of liquid biopsy to (i) characterize the mutational landscape of recurrent/metastatic HNSCC using a comprehensive gene panel and (ii) estimate the concordance between DNA mutations identified from circulating tumor DNA (ctDNA) and matched tumor tissues. Targeted next-generation sequencing (NGS) was performed on cell-free DNA (cfDNA) of 39 patients with locoregional recurrent (n = 19) and/or metastatic (n = 20) HNSCC. Tumor biopsy (n = 18) was sequenced using the same technique. ctDNA was detected in 51% of patients (20/39) with a higher probability of detection in metastatic than locoregional recurrent disease (70% versus 30%, p = 0.025). 81% and 58% of the tissue tumor variants were not detected in plasma when considering all patients and only metastatic patients with detectable ctDNA, respectively. In a multivariate analysis, the likelihood of detecting the tissue tumor variant in plasma was related to metastatic status (p = 0.012), tumor variant allele frequency (p < 0.001) and ctDNA quantity (p < 0.001). 26% of the variants were detected only in liquid and not in the solid biopsy. Three patients without an available tumor sample had plasma containing three different potentially actionable PIK3CA mutations. CtDNA detection and characterization using targeted NGS is feasible in metastatic HNSCC. Liquid biopsies do not reflect the complete mutation profile of the tumor but have the potential to identify actionable mutations when tumor biopsies are not available as well as variants not found in matched tumor tissue.
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