Soft Tissues: Undifferentiated sarcoma with t(6;22)(p21;q12) EWSR1/POU5F1
2010-01-01 Jean-Loup Huret Affiliation1.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 ID | Year | Title | Citations |
|---|---|---|---|
| 31994243 | 2020 | A morphologic and molecular reappraisal of myoepithelial tumors of soft tissue, bone, and viscera with EWSR1 and FUS gene rearrangements. | 28 |
| 37072571 | 2023 | Phase I study of sapanisertib with carboplatin and paclitaxel in mTOR pathway altered solid malignancies. | 25 |
| 20815032 | 2010 | EWSR1-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 |
| 33048366 | 2020 | Aggressive myoepithelial carcinoma with EWSR1-POU5F1 fusion highly responsive to Ewing sarcoma combination chemotherapy. | 10 |
| 15729702 | 2005 | EWSR1 is fused to POU5F1 in a bone tumor with translocation t(6;22)(p21;q12). | 0 |
| 35128846 | 2022 | Cytology-histology correlation of myoepithelial tumors harboring EWSR1-POU5F1 fusions: A report of two cases. | 0 |
| 38782103 | 2024 | Myoepithelial 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 |
| 21962892 | 2011 | Molecular characterization of an EWSR1-POU5F1 fusion associated with a t(6;22) in an undifferentiated soft tissue sarcoma. | 0 |
| 39636306 | 2024 | Reappraisal of soft tissue myoepithelial tumors by DNA methylation profiling reveals an epigenetically distinct group of mostly fusion-driven neoplasms. | 0 |
| 24487475 | 2014 | Myoepithelioma of the ovary: first reported case. | 0 |
| 25693574 | 2015 | Soft tissue myoepithelial carcinoma with rhabdoid-like features and EWSR1 rearrangement: Fine needle aspiration cytology with histologic correlation. | 0 |
Article Bibliography
| Pubmed ID | Last Year | Title | Authors |
|---|---|---|---|
| 15729702 | 2005 | EWSR1 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
