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Updated: Oct 6, 2025

Identification of OTX1 and OTX2 As Two Possible Molecular Markers for Sinonasal Carcinomas and Olfactory Neuroblastomas
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Identification of OTX1 and OTX2 As Two Possible Molecular Markers for Sinonasal Carcinomas and Olfactory Neuroblastomas

Published on: February 28, 2019

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EGFR Exon 20 Insertion Mutations in Sinonasal Squamous Cell Carcinoma

Laura Pacini1, Virginia N Cabal2, Mario A Hermsen2

  • 1Division of Molecular Pathology, The Institute of Cancer Research, Sutton SM2 5NG, UK.

Cancers
|January 21, 2022
PubMed

Insights

Epidermal growth factor receptor (EGFR) exon 20 insertions are key drivers in sinonasal squamous cell carcinoma (SNSCC). This finding opens new avenues for targeted therapies in this rare head and neck cancer.

Area of Science:

  • Oncology
  • Genetics
  • Head and Neck Cancer Research

Background:

  • Sinonasal squamous cell carcinoma (SNSCC) is a rare malignancy with high mortality.
  • EGFR mutations are implicated in SNSCC pathogenesis, distinct from other cancers.
  • Exon 20 insertions (Ex20ins) are the predominant EGFR mutation in primary SNSCC.

Purpose of the Study:

  • To review the landscape of EGFR mutations in SNSCC.
  • To focus on EGFR mutations in SNSCC associated with inverted sinonasal papilloma (ISP).
  • To discuss potential targeted therapies for EGFR Ex20ins-mutated SNSCC, drawing parallels with NSCLC.

Main Methods:

  • Literature review of EGFR mutations in SNSCC.
  • Analysis of mutation prevalence in SNSCC versus NSCLC.
  • Discussion of targeted therapy strategies based on existing knowledge from NSCLC.

Main Results:

  • EGFR Ex20ins mutations are a significant driver in SNSCC, not exclusive to lung cancer.
  • The mutational profile of EGFR in SNSCC differs from that in non-small-cell lung cancer (NSCLC).
  • EGFR Ex20ins mutations are found in SNSCC associated with inverted sinonasal papilloma (ISP).

Conclusions:

  • EGFR Ex20ins mutations play a crucial role in SNSCC development.
  • Targeted therapies used in NSCLC may offer new treatment avenues for SNSCC.
  • Further research is essential to develop effective treatments for EGFR Ex20ins-driven SNSCC.
Keywords:
EGFRdrug resistanceexon 20 insertionssinonasal squamous carcinomastyrosine kinase inhibitors

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