Skin: Clear cell hidradenoma
2006-05-01 Afrouz Behboudi , Gâran Stenman Affiliation1.Department of Clinical Genetics, Institute of Biomedicine, Gâteborg University, Box 440, 405 30 Gâteborg, Sweden
Summary
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."
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 description
DNA: spans about 94 kb and includes 14 to 16 exons. RNA: two variants of 2342 bp and 2505 bp in size.
Protein description
634 amino acids; 67300 Da
Gene name
MAML2 (mastermind-like 2)
Location
11q21
Dna rna description
DNA: spans about 365 kb and includes 5 exons. RNA: a major transcript of 7.5 kb.
Protein description
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
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 Warthins tumors, 21-28, Copyright (2004), with permission from Elsevier.
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 CRTC1MAML2 fusion gene may be detected by dual-color FISH, using BAC RP11-697H10 (MAML2) and cosmid LLNLR-255A4 (MECT1) as probes.
Reprinted partially from Publication "Exp Cell Res 292, see above.
Expression localisation
Nucleus
Article Bibliography
| Pubmed ID | Last Year | Title | Authors |
|---|---|---|---|
| 15729701 | 2005 | Clear cell hidradenoma of the skin-a third tumor type with a t(11;19)--associated TORC1-MAML2 gene fusion. | Behboudi A et al |
Citation
Afrouz Behboudi ; Gâran Stenman
Skin: Clear cell hidradenoma
Atlas Genet Cytogenet Oncol Haematol. 2006-05-01
Online version: http://atlasgeneticsoncology.org/solid-tumor/5419/skin-clear-cell-hidradenoma
