title: CRTC1/MAML2 fusion transcript in central mucoepidermoid carcinoma of mandible--diagnostic and histogenetic implications.
abstract: Intraosseous salivary gland carcinomas are extremely rare, comprising only 2% to 3% of all mucoepidermoid carcinomas (MECs) reported. The t(11;19) translocation and its CRTC1/MAML1 fusion transcript have been identified in MEC at different sites and are believed to be associated with the development of a subset of these tumors. However, the status of the fusion transcript has not been reported in intraosseous MEC. Here, we report 3 examples of central MEC of the mandible, including a case with a history of primary retromolar MEC. Reverse transcriptase-polymerase chain reaction and DNA sequencing analyses of the microdissected components of these tumors were used for the detection and verification of the fusion transcript. We identified, for the first time, the t(11;19) fusion gene transcript in central MEC, including in the previous primary retromolar MEC. No fusion transcript was detected in the second primary noncentral MEC or in another central MEC. The results indicate that central MEC can manifest the fusion transcript. This finding may have diagnostic and histogenetic roles in the future analysis of this entity.
authors.affiliation: Department of Pathology, The University of Texas MD Anderson Cancer Center, Houston, TX 77030, USA. diana.bell@mdanderson.org
authors.forename: Diana
authors.initials: D
authors.lastname: Bell
authors.forename: Christopher F
authors.initials: CF
authors.lastname: Holsinger
authors.forename: Adel K
authors.initials: AK
authors.lastname: El-Naggar
mesh_terms: D000293:Adolescent; D000328:Adult; D018277:Carcinoma, Mucoepidermoid / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D004273:DNA, Neoplasm / Q000235:genetics; D004268:DNA-Binding Proteins / Q000235:genetics*; D015972:Gene Expression Regulation, Neoplastic; D050939:Gene Fusion / Q000235:genetics*; D006801:Humans; D008297:Male; D008339:Mandibular Neoplasms / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D008875:Middle Aged; D009687:Nuclear Proteins / Q000235:genetics*; D014057:Tomography, X-Ray Computed; D015534:Trans-Activators; D014157:Transcription Factors / Q000235:genetics*; D055815:Young Adult
chemical_list: C500984:CRTC1 protein, human; D004273:DNA, Neoplasm; D004268:DNA-Binding Proteins; C471297:MAML2 protein, human; D009687:Nuclear Proteins; D015534:Trans-Activators; D014157:Transcription Factors