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

2010-01-01   Jean-Loup Huret 

1.Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France

Clinics and Pathology

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 (POU class 5 homeobox 1)

Location

6p21.33

Protein description

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 (Ewing sarcoma breakpoint region 1)

Location

22q12.2

Protein description

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

Description

5 EWSR1 - 3 POU5F1. EWSR1 exon 6 is fused in frame to POU5F1 exon 2.

Description

Fusion of the N terminal transactivation domain of EWSR1 to the POU and the homeobox (DNA binding domain) of POU5F1.

Bibliography

Pubmed IDLast YearTitleAuthors
183383302008POU5F1, encoding a key regulator of stem cell pluripotency, is fused to EWSR1 in hidradenoma of the skin and mucoepidermoid carcinoma of the salivary glands.Möller E et al

Citation

Jean-Loup Huret

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

Atlas Genet Cytogenet Oncol Haematol. 2010-01-01

Online version: http://atlasgeneticsoncology.org/solid-tumor/6281/skin-hidradenoma-with-t(6;22)(p21;q12)-ewsr1-pou5f1