Molecular Genetics of Salivary Gland Cancer


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 more uncommon entities. Novel sequencing techniques and chromosomal analyses 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 genomic variants in a limited subset of genes. Early clinical trials targeting these genetic aberrations have demonstrated promising results. 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 tumours are rare tumours with varied clinical behaviour and histopathology.
  • Advances in genetic sequencings have enabled improved insight into the genetics of salivary gland tumours.
  • 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 aetiology of these tumours.
  • Salivary gland tumours result from the deregulation of a limited number of pathways and genes – which may enable the development of targeted therapeutics for these rare tumours.

Keywords: salivary gland; cancer; adenoid cystic carcinoma; genetics; mucoepidermoid carcinoma; acinic cell carcinoma; chromosomal translocation


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Further Reading

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Sowa P, Goroszkiewicz K, Szydelko J, et al. (2018) A review of selected factors of salivary gland tumour formation and malignant transformation. BioMed Research International 2018: 2897827.

To VS, Chan JY, Tsang RK and Wei WI (2012) Review of salivary gland neoplasms. ISRN Otolaryngology 2012: 872982.

Guzzo M, Locati LD, Prott FJ, et al. (2010) Major and minor salivary gland tumors. Critical Reviews in Oncology/Hematology 74 (2): 134–148.

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Weinreb I (2013) Translocation‐associated salivary gland tumors: a review and update. Advances in Anatomic Pathology 20 (6): 367–377.

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Mallen‐St. Clair, Jon, and Ha, Patrick(Sep 2019) Molecular Genetics of Salivary Gland Cancer. In: eLS. John Wiley & Sons Ltd, Chichester. [doi: 10.1002/9780470015902.a0027223.pub2]