Skin: Clear cell hidradenoma

2006-05-01   Afrouz Behboudi , Gâran Stenman 

1.Department of Clinical Genetics, Institute of Biomedicine, Gâteborg University, Box 440, 405 30 Gâteborg, Sweden

Summary

Atlas Image
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

Atlas Image
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.
Atlas Image
Reprinted partially from Publication "Exp Cell Res 292, see above.

Expression localisation

Nucleus

Bibliography

Pubmed IDLast YearTitleAuthors
157297012005Clear 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