Skin: Clear cell hidradenoma

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

Mitelman database	t(11;19)(q21;p13) [CaseList]     t(11;19)(q21;p13) [Transloc - MCList]   CRTC1/MAML2 Fusion - MCList]
COSMIC	[ CRTC1 ]   [ MAML2 ]
arrayMap	Topo ( C44) arrayMap ((UZH-SIB Zurich)   [auto + random 100 samples .. if exist ]   [tabulated segments]
Mitelman database	CRTC1/MAML2[MCList]    CRTC1 (19p13.11) MAML2 (11q21)   t(11;19)(q21;p13)
TICdb	CRTC1/MAML2    CRTC1 (19p13.11) MAML2 (11q21)
Disease database	Skin: Clear cell hidradenoma

REVIEW articles	automatic search in PubMed
Last year articles	automatic search in PubMed

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indexed on : Wed Nov 7 17:45:24 CET 2018

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