Abstract
Background: PIK3CA pathways are the most frequently mutated oncogenic pathway in head and neck squamous cell carcinoma (HNSCC), including virally driven HNCs. PIK3CA is involved in the PI3K-PTEN-mTOR signalling pathway. PIK3CA has been implicated in HNSCC progression and PIK3CA mutations may serve as predictive biomarkers for therapy selection. Circulating tumour DNA (ctDNA) derived from necrotic and apoptotic tumour cells are thought to harbour tumour-specific genetic alterations. As such, the detection of PIK3CA alterations detected by ctDNA holds promise as a potential biomarker in HNSCC. Methods: Blood samples from treatment naïve HNSCC patients (n = 29) were interrogated for a commonly mutated PIK3CA hotspot mutation using low cost allele-specific Plex-PCRTM technology. Results: In this pilot, cross sectional study, PIK3CA E545K mutation was detected in the plasma samples of 9/29 HNSCC patients using the Plex-PCRTM technology. Conclusion: The results of this pilot study support the notion of using allele-specific technologies for cost-effective testing of ctDNA, and further assert the potential utility of ctDNA in HNSCC.
Highlights
Head and neck squamous cell carcinomas (HNSCCs) are the 6th most common cancer globally and arise from multiple anatomical sites [1]
We extracted cfDNA from an independent cohort of HNSCC patients (n = 29), and tested for the presence of the p.E545K using this technique; 9/29 plasma samples were positive for the p.E545K somatic mutation, with ∆CT values above the ‘wild-type’ (WT) threshold (Figure 1). ∆CT of cfDNA from healthy control plasma samples was found to be consistently below the threshold, highlighting the specificity of the assay (Figure 1)
A liquid biopsy for the assessment of Circulating tumour DNA (ctDNA) offers an effective means of assessing tumour changes compared to standard tissue biopsy
Summary
Head and neck squamous cell carcinomas (HNSCCs) are the 6th most common cancer globally and arise from multiple anatomical sites [1]. Diagnostics 2018, 8, 79 heterogeneity, an added layer of complexity, may hinder treatment strategies that are based on a single tumour-biopsy sample. Numerous studies have shown that when multiple biopsies of the same tumour tissue were analysed, there were vast genetic diversity between samples [2,5,6,7]. PIK3CA pathways are the most frequently mutated oncogenic pathway in head and neck squamous cell carcinoma (HNSCC), including virally driven HNCs. PIK3CA is involved in the PI3K-PTEN-mTOR signalling pathway. Methods: Blood samples from treatment naïve HNSCC patients (n = 29) were interrogated for a commonly mutated PIK3CA hotspot mutation using low cost allele-specific Plex-PCRTM technology. Results: In this pilot, cross sectional study, PIK3CA E545K mutation was detected in the plasma samples of 9/29 HNSCC patients using the
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