Pathology

 WAMTP1/MAML2 gene fusion in mucoepidermoid carcinoma by t(11;19)(q21-22;p13) translocation (#14720503#)
 WAMTP1/MAML2 gene fusion in benign Warthin tumor by t(11;19)(q21-22;p13) translocation (#14720503#)

Action

 In the fusion protein, the N-terminal basic domain of MAML2, which is required for binding to intracellular Notch (Notch ICD), is replaced by an unrelated N-terminal sequence from WAMTP1.
 Mutation analysis of the N-terminus of WAMTP1-MAML2 identified two regions of importance for nuclear localization (amino acids 11-20) and for colocalization with MAML2 and Notch1 ICD in nuclear granules (amino acids 21-42).
 altered Notch signaling pathway with upregulation of HES5 and downregulation of MASH1(#14720503#)