The genomic landscape for salivary mucoepidermoid carcinoma

Mucoepidermoid carcinoma (MEC) is the most common malignant salivary tumor. A complete understanding of the high heterogeneity of MEC in histology and genetics would help in accurate diagnosis and treatment. Therefore, We evaluated the clinical features, treatment outcomes, and pathological parameters of 454 MECs and analyzed their genomic features using whole-exome sequencing and whole-transcriptome sequencing. We found that BAP1 was the most frequently mutated gene in MEC. CDKN2A, MET, and TP53 mutations were more frequently found in aggressive tumor phenotypes. MAML2 rearrangement was observed in 42% of patients, and EWSR1 rearrangement in 8%. Specific genetic events (in TP53 and FBXW7) with CRTC1：：MAML2 fusion superimposed might be associated with unfavorable prognosis. This study provides new insights into the precision therapeutic strategies for MEC.