7 research outputs found

    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

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    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, immunohistochemistry, and fluorescent in situ hybridization (FISH) were performed. Results Forty-one cases of MEC were identified, with mean age of 47 years and mean tumor size of 21 mm. Seven locoregional recurrences and five MEC-related deaths were seen over a 22-year follow-up period. Thirty-eight cases were suitable for FISH, and 31 (82%) cases were positive for MAML2 rearrangement, including the oncocytic and clear cell variants of MEC. FISH was negative in the morphologic mimics of MEC. MAML2 rearrangement was significantly associated with longer survival. Conclusions MAML2 rearrangement is common and specific for MEC, which makes it a useful diagnostic tool. MAML2 rearrangement also predicts a favorable prognosis

    Salivary duct carcinoma : clinicopathologic features, morphologic spectrum, and somatic mutations

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    Background Accurate diagnosis of salivary duct carcinoma requires a high index of suspicion and clinicopathologic correlation. Hallmark genetic changes that may provide novel therapeutic options are being explored. Methods One hundred ninety salivary gland malignancies at Royal Prince Alfred Hospital (from 1989-2014) were reviewed. Human epidermal growth factor receptor 2 (HER2) and androgen receptor status were determined along with multigene profiling. Results Twenty-three salivary duct carcinomas were identified, predominantly in men in their fifth to ninth decades of life. Facial nerve palsy (12%) and cervical lymph node metastases (82%) were present, and 96% received postoperative adjuvant therapy. Histologically, the tumors resembled high-grade invasive and in situ ductal carcinoma of the breast. Micropapillary, papillary, sarcomatoid, oncocytic, and mucinous variants were seen. The tumors showed androgen receptor (70%), HER2 amplification (30%), and HRAS, AKT1, PIK3CA, and NRAS mutations (22%; cumulative). The 5-year disease-free survival was 36%. Conclusion Salivary duct carcinoma demonstrates a wide histopathologic spectrum. Treatment strategies need to take androgen receptor, HER2 amplification, and PIK3CA mutation into account
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