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Diagnostic and prognostic utility of Mastermind-like 2 ( MAML2 ) gene rearrangement detection by fluorescent in-situ hybridization (FISH) in mucoepidermoid carcinoma of the salivary glands
Abstract Objective Mucoepidermoid carcinoma (MEC) is the most common salivary gland malignancy, with a proportion harboring MAML2 rearrangement. This study evaluates the diagnostic and prognostic utility of MAML2 rearrangement in MEC. Study Design Salivary gland malignancies at a single institution (1989-2014) were reviewed to identify MECs. Histopathologic evaluation, immunohistochemical and fluorescent in-situ hybridization (FISH) studies were performed. Results Forty-one cases of MEC were identified with mean age of 47 years and mean tumor size of 21mm. 7 locoregional recurrences and 5 MEC related deaths were seen over a 22-year follow-up period. 38 cases were suitable for FISH and 31 (82%) cases were positive for MAML2 rearrangement, including oncocytic and clear cell variants of MEC. FISH was negative in morphologic mimics of MEC. MAML2 rearrangement was significantly associated with longer survival. Conclusions MAML2 rearrangement is common and specific for MEC making it a useful diagnostic tool. MAML2 rearrangement also predicts favourable prognosis.