| Written | 2010-01 | Jean-Loup Huret |
| Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France |
| 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 Name | POU5F1 |
| Location | 6p21 |
| 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 Name | EWSR1 |
| Location | 22q12 |
| 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 |
| REVIEW articles | automatic search in PubMed |
| Last year articles | automatic search in PubMed |
| © Atlas of Genetics and Cytogenetics in Oncology and Haematology | indexed on : Fri Jun 30 11:25:16 CEST 2017 |
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