Molecular Genetics of Salivary Gland Cancer

Abstract

Malignant salivary gland tumours are rare cancers of the head and neck with varied histopathology and clinical behaviour. The most common forms of salivary gland malignancies include mucoepidermoid carcinoma (MEC), adenoid cystic carcinoma (AdCC), acinic cell carcinoma (ACC) and a number of rare disease entities. Novel sequencing techniques and chromosomal analysis have led to an increased understanding of the genetics of these tumours. A characteristic molecular profile of many of these tumours is emerging and involves balanced chromosomal translocations that result in the expression of unique fusion proteins, as well as mutations in a limited subset of genes. Further elucidation of the molecular mechanisms of this heterogeneous group of tumours will be essential to design effective targeted therapies for salivary gland malignancies. Key Concepts Malignant salivary gland tumors are rare tumors with varied clinical behavior and histopathology. Advances in genetic sequencings has enabled improved insight into the genetics of salivary gland tumors. The majority of salivary gland malignancies result from well-defined chromosomal translocations. The chromosomal translocations found in salivary gland malignancies result in the expression of fusion genes that are important in the etiology of these tumors. Salivary gland tumors result from the deregulation of a limited number of pathways and genes – which may be enable the development of targeted therapeutics for these rare tumors.