| Written | 2006-05 | Afrouz Behboudi, Gâran Stenman |
| Department of Clinical Genetics, Institute of Biomedicine, Gâteborg University, Box 440, 405 30 Gâteborg, Sweden |
| Identity |
| ICD-Topo | C440-C449 SKIN |
| ICD-Morpho | 8402/0 Hidradenoma |
| Atlas_Id | 5419 |
| Phylum | Lung, Heart, Skin, Other::Hidradenoma |
| WHO/OMS Classification | Lung, Heart, Skin, Other |
| 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." |
| Clinics and Pathology |
| 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 |
| Cytogenetics Molecular | t(11;19)(q21;p13) translocation |
| Genes involved and Proteins |
| Gene Name | CRTC1 (CREB regulated transcription coactivator 1) |
| 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 |
| Gene Name | MAML2 (mastermind-like 2) |
| Location | 11q21 |
| 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. |
| Result of the chromosomal anomaly |
| Hybrid Gene | |
 | |
| 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. | |
| Detection | 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 CRTC1MAML2 fusion gene may be detected by dual-color FISH, using BAC RP11-697H10 (MAML2) and cosmid LLNLR-255A4 (MECT1) as probes. |
| Fusion Protein | |
 | |
| Description | Schematic representation of the MAML2 protein and the CRTC1-MAML2 fusion protein. Reprinted partially from Publication "Exp Cell Res 292, see above. |
| Expression Localisation | Nucleus |
| Bibliography |
| Clear cell hidradenoma of the skin-a third tumor type with a t(11;19)--associated TORC1-MAML2 gene fusion. |
| Behboudi A, Winnes M, Gorunova L, van den Oord JJ, Mertens F, Enlund F, Stenman G |
| Genes, chromosomes & cancer. 2005 ; 43 (2) : 202-205. |
| PMID 15729701 |
| Histological typing of skin tumors. |
| Heenan PJ, Elder DE, Sobin LH |
| World Health Organization International Histological Classification of Tumours. 1996 february. |
| Skin pathology. |
| Weedon D |
| nd ed. 2002 february. |
| Citation |
| This paper 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. |
| Free journal version : [ pdf ] [ DOI ] |
| On line version : http://AtlasGeneticsOncology.org/Tumors/ClearCelHidradID5419.html |
| Translocations implicated (Data extracted from papers in the Atlas) |
| t(11;19)(q21;p13) CRTC1/MAML2 | |
| External links |
| REVIEW articles | automatic search in PubMed |
| Last year articles | automatic search in PubMed |
| © Atlas of Genetics and Cytogenetics in Oncology and Haematology | indexed on : Thu Feb 14 17:42:17 CET 2019 |
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