Molecular pathology of sinonasal tumors

Abstract

Recent years have seen a growing number of publications on genetic aberrations in sinonasal cancer. On the one hand, due to the fact that these are rare tumors, the available data are not always conclusive, and of some types there are hardly any data. On the other hand, more and more sinonasal tumor types are becoming classified on the basis of characterizing genetic features, for example, chromosomal translocation t(15;19) NUT-BRD4 in NUT carcinoma, gene copy number deletion in SMARCB1 (INI1)-deficient carcinoma, or viral infection in HPV-related adenoid cystic-like carcinoma. In addition, highly frequent gene mutations specific to one tumor type have been reported, such as EGFR exon 20 mutations in squamous cell carcinoma associated with inverted papilloma and IDH2 mutations in undifferentiated carcinoma. This chapter will present an overview of genetic changes reported in epithelial, neuroendocrine, and mesenchymal sinonasal cancer, more or less ordered according to the number of available genetic studies.