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Frequent fusion of the CRTC1 and MAML2 genes in clear cell variants of cutaneous hidradenomas

Journal article
Authors Marta Winnes
Lena Mölne
Mark Suurküla
Ywonne Andrén
Fredrik Persson
Fredrik Enlund
Göran Stenman
Published in Genes Chromosomes Cancer
Volume 46
Issue 6
Pages 559-563
ISSN 1098-2264
Publication year 2007
Published at Institute of Biomedicine, Department of Pathology
Pages 559-563
Language en
Keywords Adenoma, Sweat Gland/*genetics/*metabolism, Adult, Aged, Aged, 80 and over, Female, Humans, In Situ Hybridization, Fluorescence, Male, Middle Aged, Oncogene Proteins, Fusion/genetics/*metabolism, Reverse Transcriptase Polymerase Chain Reaction, Sweat Gland Neoplasms/*genetics/*metabolism
Subject categories Pathology


Fusion of the CREB regulated transcription coactivator CRTC1 (a.k.a. MECT1, TORC1, or WAMTP1) to the Notch coactivator MAML2 is a characteristic feature of low-grade mucoepidermoid carcinomas of salivary and bronchial glands. The CRTC1-MAML2 fusion protein acts by inducing transcription of cAMP/CREB target genes, and this activity is crucial for the transforming properties of the protein. Here we show that the CRTC1-MAML2 gene fusion is also frequent in benign hidradenomas of the skin. FISH and RT-PCR analyses revealed that hidradenomas are genetically heterogeneous, and that 10 of the 20 tumors analyzed (50%) contained the CRTC1-MAML2 gene fusion and expressed the resulting fusion transcript. Immunohistochemical analysis demonstrated expression of the fusion protein in the majority of tumor cells, including clear cells, poroid cells, and cells with epidermoid and ductal differentiation. In addition, we could show that all fusion-positive tumors were morphologically distinguished by the presence of more or less abundant areas of clear cells whereas all fusion-negative tumors lacked clear cells. Our findings thus demonstrate that the CRTC1-MAML2 gene fusion is frequent in hidradenomas and is associated with clear cell variants of this tumor. Taken together, the present and previous observations indicate that the CRTC1-MAML2 fusion is etiologically linked to benign and low-grade malignant tumors originating from diverse exocrine glands rather than being linked to a separate tumor entity.

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