Soft Tissues: Undifferentiated sarcoma 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

Cytogenetics

Cytogenetics morphological

The t(6;22)(p21;q12) was accompanied with a marker chromosome.

Genes Involved and Proteins

Gene name

POU5F1 (POU class 5 homeobox 1)

Location

6p21.33

Protein description

360 amino acids in the longest isoform; contains a bipartte DNA-binding domain, composed of a POU- specific domain (amino acids 138-212), and a homeobox (aa 230-289). Transcription factor with a major role during embryogenesis. Binds specifically ATTTGCAT.

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. Fusion of exons 1-6 of EWSR1 to part of exon 1, and exons 2-5 of POU5F1.

Description

The N terminal transactivation domain of EWSR1 was fused to the DNA binding domains of POU5F1.

Highly cited references

Pubmed IDYearTitleCitations
319942432020A morphologic and molecular reappraisal of myoepithelial tumors of soft tissue, bone, and viscera with EWSR1 and FUS gene rearrangements.28
370725712023Phase I study of sapanisertib with carboplatin and paclitaxel in mTOR pathway altered solid malignancies.25
208150322010EWSR1-POU5F1 fusion in soft tissue myoepithelial tumors. A molecular analysis of sixty-six cases, including soft tissue, bone, and visceral lesions, showing common involvement of the EWSR1 gene.23
330483662020Aggressive myoepithelial carcinoma with EWSR1-POU5F1 fusion highly responsive to Ewing sarcoma combination chemotherapy.10
157297022005EWSR1 is fused to POU5F1 in a bone tumor with translocation t(6;22)(p21;q12).0
351288462022Cytology-histology correlation of myoepithelial tumors harboring EWSR1-POU5F1 fusions: A report of two cases.0
387821032024Myoepithelial tumors of soft tissue and bone in children and young adults: A clinicopathologic study of 40 cases occurring in patients ≤ 21 Years of age.0
219628922011Molecular characterization of an EWSR1-POU5F1 fusion associated with a t(6;22) in an undifferentiated soft tissue sarcoma.0
396363062024Reappraisal of soft tissue myoepithelial tumors by DNA methylation profiling reveals an epigenetically distinct group of mostly fusion-driven neoplasms.0
244874752014Myoepithelioma of the ovary: first reported case.0
256935742015Soft tissue myoepithelial carcinoma with rhabdoid-like features and EWSR1 rearrangement: Fine needle aspiration cytology with histologic correlation.0

Article Bibliography

Pubmed IDLast YearTitleAuthors
157297022005EWSR1 is fused to POU5F1 in a bone tumor with translocation t(6;22)(p21;q12).Yamaguchi S et al

Citation

Jean-Loup Huret

Soft Tissues: Undifferentiated sarcoma with t(6;22)(p21;q12) EWSR1/POU5F1

Atlas Genet Cytogenet Oncol Haematol. 2010-01-01

Online version: http://atlasgeneticsoncology.org/solid-tumor/5411/soft-tissues-undifferentiated-sarcoma-with-t(6;22)(p21;q12)-ewsr1-pou5f1