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Skin: Hidradenoma with t(6;22)(p21;q12) EWSR1/POU5F1

Written2010-01Jean-Loup Huret
Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France

(Note : for Links provided by Atlas : click)

Identity

ICD-Topo C440-C449 SKIN
ICD-Morpho 8402/0 Hidradenoma
Atlas_Id 6281
Phylum Lung, Heart, Skin, Other::Hidradenoma

Clinics and Pathology

Disease Hidradenoma or eccrine/apocrine acrospiroma, is a benign adnexal tumour developing most often in adults.
Epidemiology Three cases to date, 3 female patients aged 24, 63, and 85 years (Möller et al., 2008).
Pathology There was one atypical, one poroid, and one solid hidradenoma.
Prognosis Prognosis is good in this benign disease.

Cytogenetics

Cytogenetics
Morphological
The t(6;22)(p21;q12) was the sole anomaly in the only case with karyotypic studies; the 2 other cases were detected by the presence of the fusion transcript.

Genes involved and Proteins

Gene NamePOU5F1 (POU class 5 homeobox 1)
Location 6p21.33
Protein Homeobox protein (homeodomain in amino acids 230-289 in the 360 aa isoform) with a POU domain (in aa 138-212). Binds the sequence 5'-ATTTGCAT-3'. Transcription factor.

Gene NameEWSR1 (Ewing sarcoma breakpoint region 1)
Location 22q12.2
Protein From N-term to C-term: a transactivation domain (TAD) containing multiple degenerate hexapeptide repeats, 3 arginine/glycine rich domains (RGG regions), a RNA recognition motif, and a RanBP2 type Zinc finger. Role in transcriptional regulation for specific genes and in mRNA splicing.

Result of the chromosomal anomaly

Hybrid Gene
Description 5' EWSR1 - 3' POU5F1. EWSR1 exon 6 is fused in frame to POU5F1 exon 2.
Fusion Protein
Description Fusion of the N terminal transactivation domain of EWSR1 to the POU and the homeobox (DNA binding domain) of POU5F1.
  

Bibliography

POU5F1, encoding a key regulator of stem cell pluripotency, is fused to EWSR1 in hidradenoma of the skin and mucoepidermoid carcinoma of the salivary glands.
Moller E, Stenman G, Mandahl N, Hamberg H, Molne L, van den Oord JJ, Brosjo O, Mertens F, Panagopoulos I.
J Pathol. 2008 May;215(1):78-86.
PMID 18338330
 

Citation

This paper should be referenced as such :
Huret, JL
t(6;22)(p21;q12) in hidradenoma of the skin
Atlas Genet Cytogenet Oncol Haematol. 2010;14(11):1085-1085.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Tumors/t0622p21q12HidradID6281.html


Other genes implicated (Data extracted from papers in the Atlas) [ 1 ]

Genes EWSR1

Translocations implicated (Data extracted from papers in the Atlas)

 t(6;22)(p21;q12) EWSR1/POU5F1

External links

Mitelman database t(6;22)(p21;q12) EWSR1/POU5F1 [Case List]    t(6;22)(p21;q12) EWSR1/POU5F1 [Association List] Mitelman database (CGAP - NCBI)
arrayMap Topo ( C44) arrayMap ((UZH-SIB Zurich)   [auto + random 100 samples .. if exist ]   [tabulated segments]
 
COSMIC_fusionEWSR1 (22q12.2) POU5F1 (6p21.33)    [fusion1305] [fusion1306] [fusion322] [fusion323] [fusion324]
Mitelman databaseEWSR1/POU5F1[MCList]    EWSR1 (22q12.2) POU5F1 (6p21.33)   t(6;22)(p21;q12)
TICdbEWSR1/POU5F1    EWSR1 (22q12.2) POU5F1 (6p21.33)
 
Disease databaseSkin: Hidradenoma with t(6;22)(p21;q12) EWSR1/POU5F1
REVIEW articlesautomatic search in PubMed
Last year articlesautomatic search in PubMed


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