Molecular profiling of sinonasal undifferentiated carcinoma.

Gelbard A, Hale KS, Takahashi Y, Davies M, Kupferman ME, El-Naggar AK, Myers JN, Hanna EY
Head Neck. 2014 36 (1): 15-21

PMID: 23633104 · PMCID: PMC3874284 · DOI:10.1002/hed.23267

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.

Copyright © 2013 Wiley Periodicals, Inc.

MeSH Terms (20)

Adult Aged Aged, 80 and over Biopsy, Needle Carcinoma DNA, Neoplasm Female Genes, Tumor Suppressor Genetic Predisposition to Disease Genotype Humans Immunohistochemistry Male Mass Spectrometry Maxillary Sinus Neoplasms Microscopy, Electron, Transmission Middle Aged Paranasal Sinus Neoplasms Polymorphism, Single Nucleotide Prognosis

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