Somatic mutations in tumor and plasma of locoregional recurrent and/or metastatic head and neck cancer using a next‐generation sequencing panel: A preliminary study

Abstract

Background We explore the utility of TruSight Tumor 170 panel (TST170) for detecting somatic mutations in tumor and cfDNA from locoregional recurrent and/or metastatic head and neck squamous cell carcinoma (HNSCC). Methods Targeted NGS of tumor DNA and plasma cfDNA was performed using TST170 panel. In addition, a set of somatic mutations previously described in HNSCC were selected for validating in tumor, plasma, and saliva by digital droplet PCR. Results The TST170 panel identified 13 non‐synonymous somatic mutations, of which five were detected in tumoral tissue, other five in plasma cfDNA, and three in both tissue and plasma cfDNA. Of the eight somatic mutations identified in tissue, three were also identified in plasma cfDNA, showing an overall concordance rate of 37.5%. Conclusions This preliminary study shows the possibility to detect somatic mutations in tumor and plasma of HNSCC patients using a single assay that would facilitate the clinical implementation of personalized medicine in the clinic.

Liquid biopsies based on cell-free DNA as a potential biomarker in head and neck cancer

“…An overall concordance rate of 37.5% was found between somatic mutations identified in ctDNA and matched tumor tissue, whereas a 62.5% of somatic variants were only detected in ctDNA. These findings highlight the possibility to detect somatic mutations in both cfDNA and tumor tissue using this targeted-NGS panel [65] . Recently, Flach et al profiled the mutational landscape in primary and recurrent tumor tissue throughout the correspondence between resection margins and plasma cfDNA from 8 HNSCC patients using a targeted NGS panel of 161 genes.…”

“…Further studies with a prospective design and larger sample cohorts will allow to validate the clinical use of ctDNA in HNC. Another limitation in some studies was the lack of sequencing data from peripheral blood leukocytes to explore the role of clonal hematopoiesis mutations [60] , [65] , [66] . In addition to the heterogenous nature of HNC, the different methodological design of the studies including the sample type (saliva, plasma or serum), the collection and processing time, and the methods for cfDNA isolation and quantification can influence the recovery of cfDNA.…”

Role of E-cadherin and β-catenin in head and neck squamous cell carcinoma

“…Предположительно активация β-катенина происходит перекрестным путем, например, посредством активации EGFR или PI3K сигнальных путей мутациями в соответствующих генах, которые при ПКР ОГШ встречаются очень часто [36]. Наиболее частые драйверные мутации при ВПЧ-негативном плоскоклеточном раке органов головы и шеи описаны в генах TP53, NOTCH1, NF1 [38,39].…”