A Rare Case of Primary Intraosseous Mucoepidermoid Carcinoma of the Maxilla Diagnosed by MAML2 FISH Testing After Initial Misdiagnosis

一例罕见的上颌骨原发性骨内黏液表皮样癌,经MAML2 FISH检测确诊,此前曾被误诊

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Abstract

We report a case of primary intraosseous mucoepidermoid carcinoma of the maxilla, an exceedingly rare condition with only nine cases documented in the literature, contributing to a prolonged diagnostic timeline. A 58-year-old woman underwent surgery four years earlier for a left maxillary mass at another hospital, initially diagnosed as a calcifying epithelial odontogenic tumor. Due to residual tumor growth, she was referred to our hospital for a second surgery. Histopathological analysis and MAML2 gene fluorescence in situ hybridization (FISH) testing confirmed the diagnosis of mucoepidermoid carcinoma. A retrospective review of the tissue from the initial surgery revealed the same diagnosis. This disease poses diagnostic challenges as imaging and histological findings often resemble benign odontogenic cysts. Accurate diagnosis requires awareness of this condition and the application of definitive diagnostic tools. This case highlights the importance of considering intraosseous mucoepidermoid carcinoma in the differential diagnosis of jawbone lesions and the diagnostic utility of MAML2 FISH testing.

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