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Diagnostics 2018, 8(4), 79; https://doi.org/10.3390/diagnostics8040079

A Pilot Study to Non-Invasively Track PIK3CA Mutation in Head and Neck Cancer

1
The School of Biomedical Sciences, Institute of Health and Biomedical Innovation, Queensland University of Technology, Kelvin Grove 4059, Queensland, Australia
2
Translational Research Institute, Queensland University of Technology, Woolloongabba 4102, Queensland, Australia
3
School of Biomedical sciences, The University of Western Australia, Nedlands 6009, Western Australia, Australia
4
Pathwest Laboratory Medicine WA, Nedlands 6009, Western Australia, Australia
5
SpeeDx Pty. Ltd., National Innovation Centre, Australian Technology Park, Eveleigh Sydney 2015, New South Wales, Australia
6
Central Integrated Regional Cancer Service, Royal Brisbane and Women’s Hospital, Herston 4029, Queensland, Australia
*
Author to whom correspondence should be addressed.
Received: 29 October 2018 / Revised: 21 November 2018 / Accepted: 26 November 2018 / Published: 29 November 2018
(This article belongs to the Section Pathology and Molecular Diagnostics)
Full-Text   |   PDF [362 KB, uploaded 29 November 2018]   |  

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. View Full-Text
Keywords: circulating tumour (ctDNA), liquid biopsies; head and neck squamous cell carcinoma; head and neck cancers; diagnosis; monitoring circulating tumour (ctDNA), liquid biopsies; head and neck squamous cell carcinoma; head and neck cancers; diagnosis; monitoring
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Schmidt, H.; Kulasinghe, A.; Allcock, R.J.; Tan, L.Y.; Mokany, E.; Kenny, L.; Punyadeera, C. A Pilot Study to Non-Invasively Track PIK3CA Mutation in Head and Neck Cancer. Diagnostics 2018, 8, 79.

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