Download Solid Tumour Section Skin: Clear cell hidradenoma of the skin (CCH)

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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