Related Experiment Video

Updated: Oct 16, 2025

Identification of OTX1 and OTX2 As Two Possible Molecular Markers for Sinonasal Carcinomas and Olfactory Neuroblastomas
07:00

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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PIK3CA mutation in a case of CTNNB1-mutant sinonasal glomangiopericytoma

Christopher S Hong1, Mohammad Khan2, Jordan M Sukys3

  • 1Department of Neurosurgery, Division of Otolaryngology, Yale School of Medicine, New Haven, Connecticut 06510, USA.

Cold Spring Harbor Molecular Case Studies
|October 20, 2021
PubMed

Insights

This study identifies new genetic mutations, CTNNB1 and PIK3CA, in a rare sinonasal tumor called glomangiopericytoma. These findings may lead to targeted therapies for this uncommon cancer.

Area of Science:

  • Oncology
  • Genetics
  • Pathology

Background:

  • Glomangiopericytomas are rare sinonasal tumors with limited genetic characterization.
  • Existing literature primarily focuses on clinicopathologic descriptions.

Observation:

  • Whole-exome sequencing was performed on a glomangiopericytoma case.
  • Somatic mutations in CTNNB1 and PIK3CA were identified.

Findings:

  • This is the first report of concurrent CTNNB1 and PIK3CA mutations in glomangiopericytoma.
  • CTNNB1 mutations have been previously associated with this tumor, but PIK3CA mutations are novel.

Implications:

  • The identified mutations suggest dysregulation of Wnt/β-catenin and PI3K/AKT/mTOR signaling pathways.
  • These genetic alterations may present therapeutic targets for glomangiopericytoma using existing drugs.
Keywords:
thick skull base

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