دورية أكاديمية
Novel EWSR1::GFI1B gene fusion in angiofibroma of soft tissue
| العنوان: | Novel EWSR1::GFI1B gene fusion in angiofibroma of soft tissue |
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| المؤلفون: | Suurmeijer, Albert J H, Cleven, Arjen H G, Antonescu, Cristina R, Duckworth, Lauren A, Fritchie, Karen J, Billings, Steven D, Dermawan, Josephine K |
| المصدر: | Suurmeijer , A J H , Cleven , A H G , Antonescu , C R , Duckworth , L A , Fritchie , K J , Billings , S D & Dermawan , J K 2023 , ' Novel EWSR1::GFI1B gene fusion in angiofibroma of soft tissue ' , Histopathology , vol. 83 , no. 6 , pp. 959-966 . https://doi.org/10.1111/his.15044Test |
| سنة النشر: | 2023 |
| المجموعة: | University of Groningen research database |
| الوصف: | 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. |
| نوع الوثيقة: | article in journal/newspaper |
| وصف الملف: | application/pdf |
| اللغة: | English |
| العلاقة: | https://research.rug.nl/en/publications/0a0aa03f-b94b-477d-ac7c-2583b0bdba7eTest |
| DOI: | 10.1111/his.15044 |
| الإتاحة: | https://doi.org/10.1111/his.15044Test https://hdl.handle.net/11370/0a0aa03f-b94b-477d-ac7c-2583b0bdba7eTest https://research.rug.nl/en/publications/0a0aa03f-b94b-477d-ac7c-2583b0bdba7eTest https://pure.rug.nl/ws/files/897491534/Histopathology_-_2023_-_Suurmeijer_-_Novel_EWSR1_GFI1B_gene_fusion_in_angiofibroma_of_soft_tissue.pdfTest |
| حقوق: | info:eu-repo/semantics/openAccess |
| رقم الانضمام: | edsbas.D3A73564 |
| قاعدة البيانات: | BASE |
| DOI: | 10.1111/his.15044 |
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