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Molecular profiling of sinonasal undifferentiated carcinoma
Author(s) -
Gelbard Alexander,
Hale Katherine S.,
Takahashi Yoko,
Davies Michael,
Kupferman Michael E.,
ElNaggar Adel K.,
Myers Jeffrey N.,
Hanna Ehab Y.
Publication year - 2014
Publication title -
head and neck
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.012
H-Index - 127
eISSN - 1097-0347
pISSN - 1043-3074
DOI - 10.1002/hed.23267
Subject(s) - kras , malignancy , cancer research , exome sequencing , biology , exome , epidermal growth factor receptor , gene , medicine , oncology , cancer , mutation , genetics
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. © 2013 Wiley Periodicals, Inc. Head Neck 36 : 15–21, 2014