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This study identified the gene fusion (CRTC1-MAML2, originally called MECT1-MAML2) created by the characteristic chromosome translocation in mucoepidermoid carcinoma, giving the tumour a defining molecular marker.
Molecular characterisation of the recurrent t(11;19)(q21;p13) translocation in mucoepidermoid carcinoma showing fusion of the CREB coactivator MECT1 (CRTC1) to the Notch coactivator MAML2, producing a fusion protein that disrupts Notch signalling and activates CREB targets.
CRTC1-MAML2 fusion testing supports the diagnosis of mucoepidermoid carcinoma, particularly in difficult cases, and fusion-positive tumours tend to be lower grade with a better outlook.