MAML2-rearrranged sclerosing mucoepidermoid carcinoma of submandibular gland: an incidental finding in a patient with history of recurrent sialadenitis and Sjögren's syndrome

The Sclerosing subtype of mucoepidermoid carcinoma is rare, with only 39 cases reported in literature. We present a new case of sclerosing mucoepidermoid carcinoma (SMEC) with MAML2 rearrangements. A 49-year-old woman with Sjögren's syndrome experienced recurrent submandibular sialadenitis and sialolithiasis, leading to the removal of her right gland. Postoperative imaging revealed a calcified mass in her left gland which was subsequently resected. The pathologic examination revealed a well-defined tumor with extensive fibrous stroma, predominantly epidermoid cells, and occasional mucinous components. There was a dense lymphocytic and plasma cell infiltrate at the tumor's periphery. Immunohistochemistry was positive for p40 and CK7, few IgG4+ plasma cells. No eosinophils were identified. Fluorescence in situ hybridization (FISH) revealed rearrangement of the MAML2 (11q21) region. Adjuvant radiation was not recommended because of the patient's history of autoimmune diseases and the fact that the tumor was small, localized, and had negative resection margins. The patient was advised to undergo a repeat CT scan of the neck, scheduled for 3 months later. This case highlights the importance of considering SMEC in the differential diagnosis of patients with sialolithiasis or Sjögren's syndrome.