Next-Generation Sequencing Analysis of Mutations in Circulating Tumor DNA from the Plasma of Patients with Head–Neck Cancer Undergoing Chemo-Radiotherapy Using a Pan-Cancer Cell-Free Assay

Using next-generation sequencing (NGS), we investigated DNA mutations in the plasma tumor cell-free circulating DNA (ctDNA) of 38 patients with inoperable squamous cell head neck cancer (SCHNC) before and after the completion of chemoradiotherapy (CRT). Baseline mutations of the <i>TP53</i&...

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Main Authors: Michael I. Koukourakis, Erasmia Xanthopoulou, Ioannis M. Koukourakis, Sotirios P. Fortis, Nikolaos Kesesidis, Christos Kakouratos, Ioannis Karakasiliotis, Constantin N. Baxevanis
Format: Article
Language:English
Published: MDPI AG 2023-09-01
Series:Current Oncology
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Online Access:https://www.mdpi.com/1718-7729/30/10/643
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Summary:Using next-generation sequencing (NGS), we investigated DNA mutations in the plasma tumor cell-free circulating DNA (ctDNA) of 38 patients with inoperable squamous cell head neck cancer (SCHNC) before and after the completion of chemoradiotherapy (CRT). Baseline mutations of the <i>TP53</i> were recorded in 10/38 (26.3%) and persisted in 4/10 patients after CRT. <i>ΤP53</i> mutations were further detected post CRT in 7/38 additional patients with undetectable mutations at baseline (overall rate 44.7%). Furthermore, 4/38 patients exhibited baseline mutations of the <i>EGFR</i>, <i>AR</i>, <i>FGFR3</i>, and <i>FBXW3,</i> and four new gene mutations were detected after CRT (<i>MTOR</i>, <i>EGFR3</i>, <i>ALK</i>, and <i>SF3B1)</i>. Τ4 stage was related with a significantly higher rate of mutations (<i>TP53</i> and overall). Mutations were observed in 8/30 (26.6%) responders (complete/partial response) vs. in 6/8 (75%) of the rest of the patients (<i>p</i> = 0.03). Significant poorer LRFS was noted for patients with mutations detected before and after CRT (<i>p</i> = 0.02). Patients who had detectable mutations either before or after CRT had significantly worse DMFS (<i>p</i> = 0.04 overall, and <i>p</i> = 0.02 for <i>TP53</i> mutations). It was concluded that assessment of mutations before and after the end of CRT is essential to characterize patients with a high risk of locoregional recurrence or metastatic progression.
ISSN:1198-0052
1718-7729