Soft Tissues: Myoepithelioma with t(1;22)(q23;q12) EWSR1/PBX1
2009-07-01 Jean-Loup Huret Affiliation1.Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France
Clinics and Pathology
Epidemiology
One case to date, a 59-year-old female patient with a 10 years long history. The patient was well 7 months after treatment of a myoepithelioma with an uncertain degree of malignancy (Brandal et al., 2008).
Cytogenetics
Cytogenetics morphological
The t(1;22)(q23;q12) was the sole anomaly.
Genes Involved and Proteins
Gene name
PBX1 (pre-B-cell leukemia homeobox 1)
Location
1q23.3
Protein description
Homeobox protein (homeodomain in amino acids 233-295). Binds the sequence 5-ATCAATCAA-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 PBX1. EWSR1 exon 7 is fused in frame to PBX1 exon 5.
Description
Fusion of the N terminal transactivation domain of EWSR1 to the homeobox (DNA binding domain) of PBX1.
Highly cited references
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 26645726 | 2016 | Thoracic Myoepithelial Tumors: A Pathologic and Molecular Study of 8 Cases With Review of the Literature. | 52 |
| 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 |
| 36934861 | 2023 | Extraenteric Malignant Gastrointestinal Neuroectodermal Tumor-A Clinicopathologic and Molecular Genetic Study of 11 Cases. | 0 |
| 18383210 | 2008 | Detection of a t(1;22)(q23;q12) translocation leading to an EWSR1-PBX1 fusion gene in a myoepithelioma. | 0 |
| 36641377 | 2023 | NTRK-rearranged spindle cell neoplasms: a clinicopathological and molecular study of 13 cases with peculiar characteristics at one of the largest institutions in China. | 0 |
| 24487475 | 2014 | Myoepithelioma of the ovary: first reported case. | 0 |
| 31278765 | 2019 | Primary cutaneous biphasic sarcomatoid basal cell carcinoma with myoepithelial carcinoma differentiation: A new variant. | 0 |
| 23681076 | 2013 | Primary myoepithelioma of bone: a report of 8 cases. | 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 |
|---|---|---|---|
| 18383210 | 2008 | Detection of a t(1;22)(q23;q12) translocation leading to an EWSR1-PBX1 fusion gene in a myoepithelioma. | Brandal P et al |
Citation
Jean-Loup Huret
Soft Tissues: Myoepithelioma with t(1;22)(q23;q12) EWSR1/PBX1
Atlas Genet Cytogenet Oncol Haematol. 2009-07-01
Online version: http://atlasgeneticsoncology.org/solid-tumor/6277/soft-tissues-myoepithelioma-with-t(1
