MAML2 rearrangement as a useful diagnostic marker discriminating between Warthin tumour and Warthin-like mucoepidermoid carcinoma

• DOI: 10.1007/s00428-020-02798-5
• Publication Date: 2020-03-28T19:02:23Z
• Authors: Michał Bieńkowski; Michał Kunc; Mariola Iliszko; Alina Kuźniacka; Michał Studniarek; Wojciech Biernat
• Keywords: Adult; Aged, 80 and over; Gene Rearrangement; Male; Adolescent; Nuclear Proteins; Middle Aged; Adenolymphoma; Salivary Glands; 3. Good health; DNA-Binding Proteins; Diagnosis, Differential; 03 medical and health sciences; 0302 clinical medicine; Biomarkers, Tumor; Trans-Activators; Humans; Original Article; Carcinoma, Mucoepidermoid; Female; Gene Fusion; Aged; Transcription Factors

AbstractWarthin tumour is the second most common benign neoplasm of salivary glands. Despite its relatively characteristic histology, it may sometimes mimic other lesions. Here, we report two female non-smoker patients diagnosed with low-grade mucoepidermoid carcinoma with oncocytic epithelium and prominent lymphoid (Warthin-like) stroma and with molecularly confirmed MAML2 rearrangement. In addition, we screened a consecutive series of 114 Warthin tumour cases by means of MAML2 break apart fluorescence in situ hybridization to assess its value in differential diagnosis. MAML2 rearrangement was detected in both mucoepidermoid carcinoma cases, while all Warthin tumours were negative. Taking into account the literature data, Warthin-like mucoepidermoid carcinomas are more frequently observed in women, while a slight male predominance and smoking history are typical for Warthin tumour. In addition, the patients with Warthin-like mucoepidermoid carcinoma were significantly younger than those with Warthin tumour. To conclude, Warthin-like mucoepidermoid carcinoma may usually be suspected based on histology, while the diagnosis can be confirmed by means of molecular assays such as FISH. The investigation of MAML2 status is particularly advised when Warthin tumour is considered in a young, non-smoking, female patient.