key papersKey paper
The t(11;19) translocation in mucoepidermoid carcinoma creates a CRTC1-MAML2 fusion
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.
Overview
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.
Basic scienceChanged practice
Findings
- Recurrent CRTC1-MAML2 fusion in mucoepidermoid carcinoma from the t(11;19) translocation.
What it means
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.
Caveats
- Not yet a therapeutic target.