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

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

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 a...

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Main Authors: Henri Schmidt, Arutha Kulasinghe, Richard J.N. Allcock, Lit Yeen Tan, Elisa Mokany, Liz Kenny, Chamindie Punyadeera
Format: Article
Language:English
Published: MDPI AG 2018-11-01
Series:Diagnostics
Subjects:
circulating tumour (ctDNA), liquid biopsies
head and neck squamous cell carcinoma
head and neck cancers
diagnosis
monitoring
Online Access:https://www.mdpi.com/2075-4418/8/4/79
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spelling doaj-0006cf3c426d4007b6008fdbe4c042af2020-11-25T00:37:30ZengMDPI AGDiagnostics2075-44182018-11-01847910.3390/diagnostics8040079diagnostics8040079A Pilot Study to Non-Invasively Track PIK3CA Mutation in Head and Neck CancerHenri Schmidt0Arutha Kulasinghe1Richard J.N. Allcock2Lit Yeen Tan3Elisa Mokany4Liz Kenny5Chamindie Punyadeera6The School of Biomedical Sciences, Institute of Health and Biomedical Innovation, Queensland University of Technology, Kelvin Grove 4059, Queensland, AustraliaThe School of Biomedical Sciences, Institute of Health and Biomedical Innovation, Queensland University of Technology, Kelvin Grove 4059, Queensland, AustraliaSchool of Biomedical sciences, The University of Western Australia, Nedlands 6009, Western Australia, AustraliaSpeeDx Pty. Ltd., National Innovation Centre, Australian Technology Park, Eveleigh Sydney 2015, New South Wales, AustraliaSpeeDx Pty. Ltd., National Innovation Centre, Australian Technology Park, Eveleigh Sydney 2015, New South Wales, AustraliaCentral Integrated Regional Cancer Service, Royal Brisbane and Women’s Hospital, Herston 4029, Queensland, AustraliaThe School of Biomedical Sciences, Institute of Health and Biomedical Innovation, Queensland University of Technology, Kelvin Grove 4059, Queensland, AustraliaBackground: 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 na&#239;ve HNSCC patients (<i>n</i> = 29) were interrogated for a commonly mutated PIK3CA hotspot mutation using low cost allele-specific Plex-PCR<sup>TM</sup> 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-PCR<sup>TM</sup> 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.https://www.mdpi.com/2075-4418/8/4/79circulating tumour (ctDNA), liquid biopsieshead and neck squamous cell carcinomahead and neck cancersdiagnosismonitoring
collection DOAJ
language English
format Article
sources DOAJ
author Henri Schmidt
Arutha Kulasinghe
Richard J.N. Allcock
Lit Yeen Tan
Elisa Mokany
Liz Kenny
Chamindie Punyadeera
spellingShingle Henri Schmidt
Arutha Kulasinghe
Richard J.N. Allcock
Lit Yeen Tan
Elisa Mokany
Liz Kenny
Chamindie Punyadeera
A Pilot Study to Non-Invasively Track PIK3CA Mutation in Head and Neck Cancer
Diagnostics
circulating tumour (ctDNA), liquid biopsies
head and neck squamous cell carcinoma
head and neck cancers
diagnosis
monitoring
author_facet Henri Schmidt
Arutha Kulasinghe
Richard J.N. Allcock
Lit Yeen Tan
Elisa Mokany
Liz Kenny
Chamindie Punyadeera
author_sort Henri Schmidt
title A Pilot Study to Non-Invasively Track PIK3CA Mutation in Head and Neck Cancer
title_short A Pilot Study to Non-Invasively Track PIK3CA Mutation in Head and Neck Cancer
title_full A Pilot Study to Non-Invasively Track PIK3CA Mutation in Head and Neck Cancer
title_fullStr A Pilot Study to Non-Invasively Track PIK3CA Mutation in Head and Neck Cancer
title_full_unstemmed A Pilot Study to Non-Invasively Track PIK3CA Mutation in Head and Neck Cancer
title_sort pilot study to non-invasively track pik3ca mutation in head and neck cancer
publisher MDPI AG
series Diagnostics
issn 2075-4418
publishDate 2018-11-01
description 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 na&#239;ve HNSCC patients (<i>n</i> = 29) were interrogated for a commonly mutated PIK3CA hotspot mutation using low cost allele-specific Plex-PCR<sup>TM</sup> 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-PCR<sup>TM</sup> 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.
topic circulating tumour (ctDNA), liquid biopsies
head and neck squamous cell carcinoma
head and neck cancers
diagnosis
monitoring
url https://www.mdpi.com/2075-4418/8/4/79
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