Diagnosis:
Mucoepidermoid carcinoma
• The translocation t(11;19) (q21;p13), which creates the chimeric CRTC1-MAML2 fusion gene, has been demonstrated in 40% to 80% of mucoepidermoid carcinoma (MEC) cases.
• The translocation t(12;15) (p13;q25), which creates the ETV6-NTRK3 chimeric gene, is considered a defining feature of mammary analogue secretory carcinoma (MASC).
• The translocation t(12;22) (q21;q12), which creates the chimeric EWSR1-ATF1 fusion gene, has been demonstrated in approximately 80% of hyalinizing clear cell carcinoma cases.
• 8q12 alterations, involving the gene PLAG1, have been demonstrated in 25% to 30% of pleomorphic adenoma cases.
• 17q21.1 amplification, involving the gene ERBB2, has been demonstrated in approximately 40% of salivary duct carcinoma cases.
Bhaijee F, Pepper DJ, Pitman KT, Bell D:
New developments in the molecular pathogenesis of head and neck tumors: a review of tumor-specific fusion oncogenes in mucoepidermoid carcinoma, adenoid cystic carcinoma, and NUT midline carcinoma. Ann Diagn Pathol 2011;15:69-77.
Goode RK, El-Naggar AK: Mucoepidermoid carcinoma.In Barnes L, Eveson JW, Reichart P, Sidransky D (eds):
World Health Organization Classification of Tumours: Pathology and Genetics of Head and Neck Tumours. Lyon: IARC Press, 2005, 219-220.
Seethala RR:
Histologic grading and prognostic biomarkers in salivary gland carcinomas. Adv Anat Pathol 2011;18:29-45.
