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

摘要: Fusion of the CREB regulated transcription coactivator CRTC1 (a.k.a. MECT1, TORC1, or WAMTP1) to Notch MAML2 is a characteristic feature low-grade mucoepidermoid carcinomas salivary and bronchial glands. The CRTC1–MAML2 fusion protein acts by inducing cAMP/CREB target genes, this activity crucial for transforming properties protein. Here we show that gene also frequent in benign hidradenomas skin. FISH RT-PCR analyses revealed are genetically heterogeneous, 10 20 tumors analyzed (50%) contained expressed resulting transcript. Immunohistochemical analysis demonstrated expression majority tumor cells, including clear poroid cells with epidermoid ductal differentiation. In addition, could all fusion-positive were morphologically distinguished presence more less abundant areas whereas fusion-negative lacked cells. Our findings thus demonstrate associated cell variants tumor. Taken together, present previous observations indicate etiologically linked malignant originating from diverse exocrine glands rather than being separate entity. © 2007 Wiley-Liss, Inc.