EWSR1-PBX3: A novel gene fusion in myoepithelial tumors Journal Article
| Authors: | Agaram, N. P.; Chen, H. W.; Zhang, L.; Sung, Y. S.; Panicek, D.; Healey, J. H.; Nielsen, G. P.; Fletcher, C. D. M.; Antonescu, C. R. |
| Article Title: | EWSR1-PBX3: A novel gene fusion in myoepithelial tumors |
| Abstract: | The genetics of myoepithelial tumors (ME) of soft tissue and bone have recently been investigated, with EWSR1-related gene fusions being seen in approximately half of the tumors. The fusion partners of EWSR1 so far described include POU5F1, PBX1, ZNF444 and, in a rare case, ATF1. We investigated by RNA sequencing an index case of EWSR1-rearranged ME of the tibia, lacking a known fusion partner, and identified a novel EWSR1-PBX3 fusion. The fusion was further validated by reverse transcriptase polymerase chain reaction and fluorescence in situ hybridization (FISH). To evaluate if this is a recurrent event, an additional cohort of 22 EWSR1-rearranged ME cases lacking a fusion partner were screened by FISH for abnormalities in PBX3 gene. Thus, two additional cases were identified showing an EWSR1-PBX3 gene fusion. One of them was also intraosseous involving the ankle, while the other occurred in the soft tissue of the index finger. The morphology of the EWSR1-PBX3 fusion positive cases showed similar findings, with nests or sheets of epithelioid to spindle cells in a partially myxoid to collagenous matrix. All three cases showed expression of S100 and EMA by immunohistochemistry. In summary, we report a novel EWSR1-PBX3 gene fusion in a small subset of ME, thereby expanding the spectrum of EWSR1-related gene fusions seen in these tumors. This gene fusion seems to occur preferentially in skeletal ME, with two of the three study cases occurring in intraosseous locations. |
| Journal Title: | Genes Chromosomes and Cancer |
| Volume: | 54 |
| Issue: | 2 |
| ISSN: | 1045-2257 |
| Publisher: | Wiley Periodicals, Inc |
| Date Published: | 2015-02-01 |
| Start Page: | 63 |
| End Page: | 71 |
| Language: | English |
| DOI: | 10.1002/gcc.22216 |
| PROVIDER: | scopus |
| PMCID: | PMC4268355 |
| PUBMED: | 25231231 |
| DOI/URL: | |
| Notes: | Export Date: 2 January 2015 -- Source: Scopus |
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