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| Content Provider | Springer Nature : BioMed Central |
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| Author | Vogels, Rob JC Vlenterie, Myrella Versleijen-Jonkers, Yvonne MH Ruijter, Emiel Bekers, Elise M Verdijk, Marian AJ Link, Monique M Bonenkamp, Johannes J van der Graaf, Winette TA Slootweg, Pieter J Suurmeijer, Albert JH Groenen, Patricia JTA Flucke, Uta |
| Abstract | Background Solitary fibrous tumor is a mesenchymal tumor of fibroblastic type, which can affect any region of the body. Recently, a recurrent gene fusion NAB2-STAT6 has been identified as molecular hallmark. The NAB2-STAT6 fusion leads to EGR1 activation and transcriptional deregulation of EGR1-dependent target genes and is a driving event in initiation of SFT. In this study, we report the clinicopathologic and RT-PCR findings and evaluated expression of STAT6 and EGR1 protein in a cohort of 28 SFTs. Methods 28 patients with a median age of 54 years were included with SFTs originating at different sites, most occurring in the lung and pleura (9, 32%), 5 in soft tissues of the lower extremities (18%) and 5 in the head and neck (18%). For detection of the NAB2-STAT6 fusion gene, RT-PCR was performed using RNA extracted from formalin-fixed and paraffin-embedded tissues. Immunohistochemistry was performed on all cases with antibodies against STAT6 and EGR1. Results All patients were treated by surgery, 3 with adjuvant chemo- or radiotherapy. Follow-up data of 18 patients could be obtained of which 2 patients died of metastatic disease 13 months and 52 years after first diagnosis. Sixteen patients have no evidence of disease with a median follow up of 29.5 months (range 7 – 120 months). NAB2-STAT6 fusion transcripts were found in 19/28 cases (68%). The most common fusion was between NAB2 exon 4 and STAT6 exon 3 (11/19, 58%), mainly occurring in pleuropulmonary lesions. All cases showed strong nuclear expression of STAT6 (28/28, 100%) while EGR1 showed low-level variable nuclear expression in all samples, comparable with the EGR1 expression results of the control group. Conclusions The identification of the NAB2-STAT6 fusion in SFTs can provide important diagnostic information, especially in cases with aberrant morphology or when biopsy material is limited. STAT6 immunohistochemistry is another useful tool in diagnosing SFT. EGR1 immunohistochemistry indicates low-level protein expression in accordance with EGR1 activation due to distorted NAB2 activity. Virtual slides The virtual slide(s) for this article can be found here: http://www.diagnosticpathology.diagnomx.eu/vs/13000_2014_224 |
| Related Links | https://diagnosticpathology.biomedcentral.com/counter/pdf/10.1186/s13000-014-0224-6.pdf |
| Ending Page | 9 |
| Page Count | 9 |
| Starting Page | 1 |
| File Format | HTM / HTML |
| ISSN | 17461596 |
| DOI | 10.1186/s13000-014-0224-6 |
| Journal | Diagnostic Pathology |
| Issue Number | 1 |
| Volume Number | 9 |
| Language | English |
| Publisher | BioMed Central |
| Publisher Date | 2014-11-29 |
| Access Restriction | Open |
| Subject Keyword | Pathology Solitary fibrous tumor Hemangiopericytoma NAB2-STAT6 fusion RT-PCR STAT6 immunohistochemistry EGR1 immunohistochemistry Soft tissue |
| Content Type | Text |
| Resource Type | Article |
| Subject | Histology Pathology and Forensic Medicine |
| Journal Impact Factor | 2.4/2023 |
| 5-Year Journal Impact Factor | 2.6/2023 |
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