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Clear cell hidradenoma of the skin-a third tumor type with a t(11;19)--associated TORC1-MAML2 gene fusion.

Journal article
Authors Afrouz Behboudi
Marta Winnes
Ludmila Gorunova
Joost J van den Oord
Fredrik Mertens
Fredrik Enlund
Göran Stenman
Published in Genes, chromosomes & cancer
Volume 43
Issue 2
Pages 202-5
ISSN 1045-2257
Publication year 2005
Published at Institute of Laboratory Medicine, Dept of Pathology
Pages 202-5
Language en
Keywords Artificial Gene Fusion, Base Sequence, Chromosomes, Human, Pair 11, Chromosomes, Human, Pair 19, DNA Primers, DNA-Binding Proteins, Humans, Nuclear Proteins, genetics, Skin Neoplasms, genetics, Transcription Factors, genetics, Translocation, Genetic
Subject categories Medical and Health Sciences


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.

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