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      Solitary fibrous tumor of the breast: A case report

      case-report

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          Abstract

          Introduction

          Solitary fibrous tumors (SFTs) are uncommon mesenchymal neoplasms that comprise <2 % of all soft tissue tumors. They are a diagnostically challenging group of neoplasms that can occur essentially anywhere. Molecular or genetic testing of soft tissue tumors will increasingly add to the foundation of distinctive histologic features, as accurate diagnosis is critical for appropriate treatment.

          Case presentation

          A 28-year-old woman was referred to our hospital for a left breast mass. Ultrasonography showed an oval hypoechoic mass with partially obscured boundaries. Surgical specimens revealed spindle tumor cells surrounding the mammary ducts and were immunoreactive for both CD34 and STAT6, suggesting SFTs. However, the infiltration of spindle tumor cells into the surrounding fat, and the storiform-like pattern made us consider dermatofibrosarcoma protuberans (DFSP) as a differential diagnosis. Lack of amplification of the COL1A1-PDGFB fusion gene, a characteristic feature of DFSP, led to our definitive diagnosis of breast SFT.

          Discussion

          The presence of STAT6 in tumor cell nuclei is a highly sensitive immunohistochemical marker for SFT. In our case, morphological features evoked the differential diagnosis of DFSP and we investigated the COL1A1-PDGFB fusion gene. The diagnostic process of reliably performing careful morphological examination and immunohistochemical marker test, and then obtain conviction by molecular cytogenetic technique is more and more important for soft tissue tumors.

          Conclusions

          We report a quite uncommon case of breast SFT and excluded DFSP as a differential diagnosis. If it is difficult to distinguish between these diseases, molecular cytogenetic analysis would be required for accurate diagnosis.

          Highlights

          • Solitary fibrous tumor arising at the breast is quite uncommon

          • Both solitary fibrous tumor and dermatofibrosarcoma protuberans are classified as fibroblastic/myofibroblastic soft tissue tumors

          • Solitary fibrous tumor is highly immunoreactive for STAT6

          • COL1A1-PDGFB fusion gene is a characteristic feature of dermatofibrosarcoma protuberans

          • Molecular cytogenetic technique would be required and be helpful for accurate diagnosis of soft tissue tumors

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          Most cited references38

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          The SCARE 2020 Guideline: Updating Consensus Surgical CAse REport (SCARE) Guidelines

          The SCARE Guidelines were first published in 2016 and were last updated in 2018. They provide a structure for reporting surgical case reports and are used and endorsed by authors, journal editors and reviewers, in order to increase robustness and transparency in reporting surgical cases. They must be kept up to date in order to drive forwards reporting quality. As such, we have updated these guidelines via a DELPHI consensus exercise.
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            The 2020 WHO Classification of Soft Tissue Tumours: news and perspectives

            Mesenchymal tumours represent one of the most challenging field of diagnostic pathology and refinement of classification schemes plays a key role in improving the quality of pathologic diagnosis and, as a consequence, of therapeutic options. The recent publication of the new WHO classification of Soft Tissue Tumours and Bone represents a major step toward improved standardization of diagnosis. Importantly, the 2020 WHO classification has been opened to expert clinicians that have further contributed to underline the key value of pathologic diagnosis as a rationale for proper treatment. Several relevant advances have been introduced. In the attempt to improve the prediction of clinical behaviour of solitary fibrous tumour, a risk assessment scheme has been implemented. NTRK-rearranged soft tissue tumours are now listed as an “emerging entity” also in consideration of the recent therapeutic developments in terms of NTRK inhibition. This decision has been source of a passionate debate regarding the definition of “tumour entity” as well as the consequences of a “pathology agnostic” approach to precision oncology. In consideration of their distinct clinicopathologic features, undifferentiated round cell sarcomas are now kept separate from Ewing sarcoma and subclassified, according to the underlying gene rearrangements, into three main subgroups (CIC, BCLR and not ETS fused sarcomas) Importantly, In order to avoid potential confusion, tumour entities such as gastrointestinal stroma tumours are addressed homogenously across the different WHO fascicles. Pathologic diagnosis represents the integration of morphologic, immunohistochemical and molecular characteristics and is a key element of clinical decision making. The WHO classification is as a key instrument to promote multidisciplinarity, stimulating pathologists, geneticists and clinicians to join efforts aimed to translate novel pathologic findings into more effective treatments.
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              Identification of recurrent NAB2-STAT6 gene fusions in solitary fibrous tumor by integrative sequencing.

              A 44-year old woman with recurrent solitary fibrous tumor (SFT)/hemangiopericytoma was enrolled in a clinical sequencing program including whole-exome and transcriptome sequencing. A gene fusion of the transcriptional repressor NAB2 with the transcriptional activator STAT6 was detected. Transcriptome sequencing of 27 additional SFTs identified the presence of a NAB2-STAT6 gene fusion in all tumors. Using RT-PCR and sequencing, we detected this fusion in all 51 SFTs, indicating high levels of recurrence. Expression of NAB2-STAT6 fusion proteins was confirmed in SFT, and the predicted fusion products harbor the early growth response (EGR)-binding domain of NAB2 fused to the activation domain of STAT6. Overexpression of the NAB2-STAT6 gene fusion induced proliferation in cultured cells and activated the expression of EGR-responsive genes. These studies establish NAB2-STAT6 as the defining driver mutation of SFT and provide an example of how neoplasia can be initiated by converting a transcriptional repressor of mitogenic pathways into a transcriptional activator.
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                Author and article information

                Contributors
                Journal
                Int J Surg Case Rep
                Int J Surg Case Rep
                International Journal of Surgery Case Reports
                Elsevier
                2210-2612
                01 June 2023
                July 2023
                01 June 2023
                : 108
                : 108369
                Affiliations
                [a ]Department of Surgery, Inagi Municipal Hospital, Tokyo, Japan
                [b ]Department of Surgery, Keio University School of Medicine, Tokyo, Japan
                [c ]Department of Dermatology, Keio University School of Medicine, Tokyo, Japan
                [d ]Department of Diagnostic Pathology, Keio University Hospital, Tokyo, Japan
                [e ]Department of Surgery, Teikyo University School of Medicine, Tokyo, Japan
                Author notes
                [* ]Corresponding author at: Department of Surgery, Inagi Municipal Hospital, 1171 Ohmaru, Inagi, Tokyo 206-0801, Japan. chikakohirose5@ 123456gmail.com
                Article
                S2210-2612(23)00498-4 108369
                10.1016/j.ijscr.2023.108369
                10382724
                33d605b3-b0ce-455d-8972-7e28e19312fb
                © 2023 The Authors

                This is an open access article under the CC BY license (http://creativecommons.org/licenses/by/4.0/).

                History
                : 23 March 2023
                : 24 May 2023
                : 26 May 2023
                Categories
                Case Report

                breast,solitary fibrous tumor,dermatofibrosarcoma protuberans,stat6,col1a1-pdgfb fusion gene,soft tissue tumor

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