Novel EWSR1::GFI1B gene fusion in angiofibroma of soft tissue Journal Article
| Authors: | Suurmeijer, A. J. H.; Cleven, A. H. G.; Antonescu, C. R.; Duckworth, L. A.; Fritchie, K. J.; Billings, S. D.; Dermawan, J. K. |
| Article Title: | Novel EWSR1::GFI1B gene fusion in angiofibroma of soft tissue |
| Abstract: | Aims: Angiofibroma of soft tissue is a benign soft tissue tumour characterised by bland spindle cells and a distinct branching vascular network. The majority of soft tissue angiofibromas harbour AHRR::NCOA2 gene fusions. Here we present three cases of EWSR1::GFI1B-fused soft tissue tumours that are morphologically most reminiscent of soft tissue angiofibroma. Methods and results: All three cases presented in male patients with an age range of 35–78 years (median = 54 years). Two cases presented as subcutaneous nodules on the trunk (posterior neck and chest wall); one was an intramuscular foot mass. The tumours were unencapsulated nodules with infiltrative margins ranging from 2.2 to 3.4 cm in greatest dimension. Histologically, the tumours contained uniformly bland fibroblastic spindle cells with ovoid to fusiform nuclei and delicate cytoplasmic processes embedded in a myxoid to myxocollagenous stroma. All three cases were characterised by a thin-walled, branching vascular network evenly distributed throughout the tumour. Overt cytological atypia or conspicuous mitotic activity was absent. The spindle cells had an essentially null immunophenotype. By targeted RNA sequencing, an in-frame gene fusion between EWSR1 exons 1–7 and GFI1B exons 6–11 or 7–11 was detected in all three cases. The tumours were marginally excised. For all three cases, there were no documented local recurrence or distant metastases during a limited follow-up period of 6–10 months. Conclusions: We propose that EWSR1::GFI1B may represent a novel fusion variant of soft tissue angiofibroma. © 2023 The Authors. Histopathology published by John Wiley & Sons Ltd. |
| Keywords: | immunohistochemistry; adult; clinical article; human tissue; protein expression; aged; middle aged; cancer surgery; unclassified drug; exon; genetics; exons; proto-oncogene proteins; case report; cancer radiotherapy; postoperative care; follow up; dna synthesis; cd34 antigen; tumor volume; carboxy terminal sequence; pathology; histology; endothelium cell; amino acid sequence; amino terminal sequence; head and neck neoplasms; needle biopsy; amplicon; gene fusion; transcription factor erg; fibroblast; cytoplasm; spindle cell; immunophenotyping; disease duration; rna binding protein ews; zinc finger protein; repressor protein; repressor proteins; ewsr1 protein, human; thorax wall; soft tissue neoplasms; soft tissue tumor; muscle tumor; head and neck tumor; complementary dna; rna extraction; glucose transporter 1; cytokeratin ae1; cytokeratin ae3; epithelial membrane antigen; rna-binding protein ews; smooth muscle actin; foot; subcutaneous nodule; surgical margin; pericyte; swelling; angiofibroma; dna library; multiplex polymerase chain reaction; gfi1b; ewsr1; dna sequencing; humans; human; male; article; rna sequencing; platelet endothelial cell adhesion molecule 1; hemangiofibroma; proto oncogene protein; soft tissue angiofibroma; protein gfi1b; gfi1b protein, human; abductor muscle; nape |
| Journal Title: | Histopathology |
| Volume: | 83 |
| Issue: | 6 |
| ISSN: | 0309-0167 |
| Publisher: | Wiley Blackwell |
| Date Published: | 2023-12-01 |
| Start Page: | 959 |
| End Page: | 966 |
| Language: | English |
| DOI: | 10.1111/his.15044 |
| PUBMED: | 37680034 |
| PROVIDER: | scopus |
| PMCID: | PMC11423792 |
| DOI/URL: | |
| Notes: | Article -- Source: Scopus |
