Survey
* Your assessment is very important for improving the workof artificial intelligence, which forms the content of this project
* Your assessment is very important for improving the workof artificial intelligence, which forms the content of this project
Atlas of Genetics and Cytogenetics in Oncology and Haematology OPEN ACCESS JOURNAL AT INIST-CNRS Solid Tumour Section Mini Review Skin: Clear cell hidradenoma of the skin (CCH) Afrouz Behboudi, Göran Stenman Department of Clinical Genetics, Institute of Biomedicine, Göteborg University, Box 440, 405 30 Göteborg, Sweden Published in Atlas Database: May 2006 Online updated version: http://AtlasGeneticsOncology.org/Tumors/ClearCelHidradID5419.html DOI: 10.4267/2042/38365 This work is licensed under a Creative Commons Attribution-Non-commercial-No Derivative Works 2.0 France Licence. © 2006 Atlas of Genetics and Cytogenetics in Oncology and Haematology Identity Other names: Nodular Hidradenomas; Eccrine Acrospiromas. Morphology of a CCH with typical clear cells, squamous differentiation, and ductal structures (inset). Reprinted partially from Publication: Genes Chromosomes Cancer;43(2), Behboudi A., Winnes M., Gorunova L., van den Oord J.J., Mertens F., Enlund F., Stenman G. Clear cell hidradenoma of the skin-a third tumor type with a t(11;19)--associated TORC1-MAML2 gene fusion, 202-205, Copyright (2005), with permission from John Wiley and Sons Inc. Atlas Genet Cytogenet Oncol Haematol. 2006;10(4) 285 Skin: Clear cell hidradenoma of the skin (CCH) Behboudi A, Stenman G Clinics and pathology DNA/RNA DNA: spans about 365 kb and includes 5 exons. RNA: a major transcript of 7.5 kb. Protein 1153 aa, 125000 Da; conserved N-terminal basic domain (aa 29-92) which binds to the ankyrin repeat domain of Notch receptors; two acidic domains (aa 263-360 and 1124-1153) and a C-terminal transcriptional activation domain. Disease Clear Cell Hidradenomas of the skin (CCH) are benign sweat gland tumors of eccrine duct origin often presenting as solitary, intradermal nodules. They are usually circumscribed, nonencapsulated tumors composed of polyhedral or fusiform cells with clear or eosinophilic cytoplasm. In some tumors, epidermoid differentiation may also be encountered. CCHs rarely undergo malignant transformation. Cytogenetics Result of the chromosomal anomaly Cytogenetics molecular Hybride Gene t(11;19)(q21;p13) translocation. Detection protocole 1- RT-PCR using total RNA from frozen tumor tissue or paraffin-embedded tumor tissue: amplification of the CRTC1-MAML2 fusion transcript by nested RT-PCR using the first-round primers CRTC1, 5'AGGAGGTGGAGGAGGAGGAG-3', and MAML2, 5'-TGTTGGCAGGAGATAGGTTAACTACCTG-3' (product size 221 bp), and the second-round primers CRTC1, 5'-GAGAAGATCGCGCTGCAC-3', and MAML2, 5'GTTAACTACCTGTTTTCTTTTCAAGG-3' (product size 127 bp). 2- Dual-color FISH on metaphase chromosomes: The CRTC1-MAML2 fusion gene may be detected by dualcolor FISH, using BAC RP11-697H10 (MAML2) and cosmid LLNLR-255A4 (MECT1) as probes. Genes involved and Proteins CREB regulated transcription coactivator 1 (CRTC1) Location: 19p13.11 Note: Alias: MECT1, WAMTP1, TORC1. DNA/RNA DNA: spans about 94 kb and includes 14 to 16 exons. RNA: two variants of 2342 bp and 2505 bp in size. Protein 634 amino acids; 67300 Da. Mastermind-like 2 (MAML2) Location: 11q21 Nucleotide and deduced amino acid sequences of the CRTC1-MAML2 breakpoint junction. The MAML2 exon 2 sequence is shown in bold. Reprinted partially from Publication: Exp Cell Res 292, Enlund F., Behboudi A., Andren Y., Oberg C., Lendahl U., Mark J., Stenman G., Altered Notch signaling resulting from expression of a WAMTP1-MAML2 gene fusion in mucoepidermoid carcinomas and benign Warthin's tumors, 21-28, Copyright (2004), with permission from Elsevier. Schematic representation of the MAML2 protein and the CRTC1-MAML2 fusion protein. Reprinted partially from Publication: Exp Cell Res 292, see above. Atlas Genet Cytogenet Oncol Haematol. 2006;10(4) 286 Skin: Clear cell hidradenoma of the skin (CCH) Behboudi A, Stenman G the skin-a third tumor type with a t(11;19)--associated TORC1MAML2 gene fusion. Genes Chromosomes Cancer 2005 Jun;43(2):202-205. References Weedon D. Skin pathology. 2nd ed. New York, Churchill Livingstone:895 2002. This article should be referenced as such: Behboudi A, Stenman G. Skin: Clear cell hidradenoma of the skin (CCH). Atlas Genet Cytogenet Oncol Haematol.2006; 10(4):285-287. Heenan PJ, Elder DE, Sobin LH. Histological typing of skin tumors. World Health Organization International Histological Classification of Tumours 1996 2nd ed. Berlin, SpringerVerlag:54. Behboudi A, Winnes M, Gorunova L, van den Oord JJ, Mertens F, Enlund F, Stenman G. Clear cell hidradenoma of Atlas Genet Cytogenet Oncol Haematol. 2006;10(4) 287