Related Experiment Video
Updated: May 11, 2026
Identification of OTX1 and OTX2 As Two Possible Molecular Markers for Sinonasal Carcinomas and Olfactory Neuroblastomas
Published on: February 28, 2019
Molecular profiling of sinonasal undifferentiated carcinoma
Alexander Gelbard1, Katherine S Hale, Yoko Takahashi
1Department of Head and Neck Surgery, The University of Texas MD Anderson Cancer Center, Houston, Texas; Bobby R. Alford Department of Otolaryngology-Head and Neck Surgery Baylor College of Medicine, Houston, Texas.
Background:
Sinonasal undifferentiated carcinoma (SNUC) remains a poorly characterized malignancy at both the clinical and molecular level, and, consequently, the optimal treatment strategy remains undefined.
Methods:
We used a mass spectroscopy-based approach (Sequenom) to evaluate 95 hallmark single nucleotide variations (SNVs) within 12 oncogenes or tumor suppressor genes (AKT, BRAF, CDK4, Beta-catenin, epidermal growth factor receptor [EGFR], FBXW7, JAK2, c-KIT, KRAS, PDGFR, PI3K, and vascular endothelial growth factor [VEGF]) in 13 histologically confirmed SNUC cases.
Results:
None of the samples demonstrated activating mutations in any of the 95 SNVs.
Conclusion:
Select clinically relevant activating genomic mutations were not identified in the 13 patient samples. However, polymorphisms were noted within the promoter region of VEGF. These may merit future studies as predictive biomarkers for treatment response or overall survival. Additionally, future studies focusing on larger tumor sets and utilizing whole genome or exome sequencing may help define genetic aberrations in SNUC that can be clinically targeted with available or emerging biological agents.
Insights
Activating mutations were not found in 13 sinonasal undifferentiated carcinoma (SNUC) cases. However, vascular endothelial growth factor (VEGF) promoter polymorphisms may offer future biomarkers for SNUC treatment response.
Area of Science:
- Oncology
- Genetics
- Molecular Biology
Background:
- Sinonasal undifferentiated carcinoma (SNUC) is a rare cancer with poorly understood clinical and molecular characteristics.
- The optimal treatment strategy for SNUC remains undefined due to limited research.
Purpose of the Study:
- To investigate the presence of hallmark single nucleotide variations (SNVs) in key oncogenes and tumor suppressor genes in SNUC.
- To identify potential genetic targets for SNUC treatment.
Main Methods:
- A mass spectrometry-based approach (Sequenom) was employed to analyze 95 SNVs in 12 genes.
- 13 histologically confirmed SNUC patient samples were analyzed.
Main Results:
- No activating mutations were detected in any of the analyzed SNVs across the 13 SNUC samples.
- Polymorphisms were identified in the promoter region of the vascular endothelial growth factor (VEGF) gene.
Conclusions:
- The study did not identify clinically relevant activating genomic mutations in the studied SNUC cohort.
- VEGF promoter polymorphisms warrant further investigation as potential predictive biomarkers for SNUC treatment response and survival.
- Future research should focus on larger SNUC cohorts and employ whole genome or exome sequencing to identify targetable genetic aberrations.
More Related Videos
07:59Ultra-Fast Amplicon-Based Next-Generation Sequencing in Non-Squamous Non-Small Cell Lung Cancer
Published on: September 8, 2023
08:33Olfactory Neurons Obtained through Nasal Biopsy Combined with Laser-Capture Microdissection: A Potential Approach to Study Treatment Response in Mental Disorders
Published on: December 4, 2014