title: Clear cell hidradenoma of the skin-a third tumor type with a t(11;19)--associated TORC1-MAML2 gene fusion.
abstract: Recent studies have shown that the t(11;19)(q21;p13) translocation in mucoepidermoid carcinomas and benign Warthin's tumors results in a fusion of the N-terminal CREB-binding domain of the cAMP coactivator TORC1 (a.k.a. MECT1 and WAMTP1) to the Notch coactivator MAML2. Here we show that a third tumor type, clear cell hidradenoma of the skin, also expresses this gene fusion. RT-PCR analysis of a clear cell hidradenoma with a t(11;19)(q21;p13) translocation revealed expression of a TORC1-MAML2 fusion transcript consisting of exon 1 of TORC1 fused to exons 2-5 of MAML2. Because the fusion was only detected in a single case, the frequency of this aberration in clear cell hidradenomas remains unknown. These results demonstrate that the t(11;19) in mucoepidermoid carcinoma, Warthin's tumor, and clear cell hidradenoma targets the same genes and results in identical gene fusions, indicating that at least subgroups of these glandular tumors evolve through activation of the same molecular pathways.
authors.affiliation: Lundberg Laboratory for Cancer Research, Department of Pathology, Göteborg University, Sahlgrenska University Hospital, Göteborg, Sweden.
authors.forename: Afrouz
authors.initials: A
authors.lastname: Behboudi
authors.forename: Marta
authors.initials: M
authors.lastname: Winnes
authors.forename: Ludmila
authors.initials: L
authors.lastname: Gorunova
authors.forename: Joost J
authors.initials: JJ
authors.lastname: van den Oord
authors.forename: Fredrik
authors.initials: F
authors.lastname: Mertens
authors.forename: Fredrik
authors.initials: F
authors.lastname: Enlund
authors.forename: Göran
authors.initials: G
authors.lastname: Stenman
mesh_terms: D019677:Artificial Gene Fusion; D001483:Base Sequence; D002880:Chromosomes, Human, Pair 11; D002888:Chromosomes, Human, Pair 19; D017931:DNA Primers; D004268:DNA-Binding Proteins; D006801:Humans; D009687:Nuclear Proteins / Q000235:genetics*; D012878:Skin Neoplasms / Q000235:genetics*; D015534:Trans-Activators; D014157:Transcription Factors / Q000235:genetics*; D014178:Translocation, Genetic
chemical_list: C500984:CRTC1 protein, human; D017931:DNA Primers; D004268:DNA-Binding Proteins; C471297:MAML2 protein, human; D009687:Nuclear Proteins; D015534:Trans-Activators; D014157:Transcription Factors