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A Model for Perineural Invasion in Head and Neck Squamous Cell Carcinoma
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A Model for Perineural Invasion in Head and Neck Squamous Cell Carcinoma

Published on: January 5, 2017

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

Henri Schmidt1,2, Arutha Kulasinghe3,4, Richard J N Allcock5,6

  • 1The School of Biomedical Sciences, Institute of Health and Biomedical Innovation, Queensland University of Technology, Kelvin Grove 4059, Queensland, Australia. henri.schmidt@connect.qut.edu.au.

Diagnostics (Basel, Switzerland)
|December 2, 2018
PubMed
Abstract

Insights

This pilot study detected PIK3CA E545K mutations in circulating tumor DNA (ctDNA) from head and neck squamous cell carcinoma (HNSCC) patients. Allele-specific PCR offers a promising, cost-effective method for ctDNA biomarker detection in HNSCC.

Area of Science:

  • Oncology
  • Molecular Biology
  • Genetics

Background:

  • PIK3CA pathway mutations are common in head and neck squamous cell carcinoma (HNSCC).
  • PIK3CA mutations are implicated in HNSCC progression and may predict therapy response.
  • Circulating tumor DNA (ctDNA) analysis offers a non-invasive method for detecting tumor-specific alterations.

Purpose of the Study:

  • To investigate the utility of ctDNA for detecting PIK3CA mutations in HNSCC.
  • To evaluate the feasibility of using low-cost allele-specific technology for ctDNA analysis.

Main Methods:

  • Blood samples were collected from 29 treatment-naïve HNSCC patients.
  • Low-cost, allele-specific Plex-PCR™ technology was used to detect a common PIK3CA hotspot mutation.

Main Results:

  • The PIK3CA E545K mutation was detected in the plasma of 9 out of 29 (31%) HNSCC patients.
  • The Plex-PCR™ technology successfully identified the target mutation in ctDNA samples.

Conclusions:

  • Allele-specific technologies provide a cost-effective approach for ctDNA testing.
  • ctDNA analysis holds significant potential as a biomarker for HNSCC management.
Keywords:
circulating tumour (ctDNA), liquid biopsiesdiagnosishead and neck cancershead and neck squamous cell carcinomamonitoring

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