Intraarticular Nodular Fasciitis of the Knee With MHY9-USP6 Fusion: A Case Report

Author:

Igrec Jasminka1,Brčić Iva2ORCID,Igrec Renato3,Bergovec Marko3,Kashofer Karl2,Fuchsjäger Michael1,Leithner Andreas3,Liegl-Atzwanger Bernadette2

Affiliation:

1. Division of General Radiology, Department of Radiology, Medical University of Graz, Graz, Austria

2. Diagnostic and Research Institute of Pathology, Medical University of Graz, Graz, Austria

3. Department of Orthopedics and Trauma, Medical University of Graz, Graz, Austria

Abstract

Background. Nodular fasciitis (NF) is a self-limiting, benign mesenchymal neoplasm of fibroblastic/myofibroblastic origin. Due to the fast growth, cellularity, and frequently observed high mitotic count, it is commonly misdiagnosed as a sarcoma, often resulting in overtreatment. Intraarticular examples of NF are extremely rare. Radiologically, NF can mimic fibroma of the tendon sheath, tenosynovial giant cell tumor, and synovial chondromatosis. Histology can vary from hypercellular, mitotically active lesions to fibrotic, less cellular ones, and can, therefore, mimic other benign and low-grade malignant neoplasms. Recently, the MYH9-USP6 fusion has been found in up to 92% of NF. Case Presentation. In this article, we report a case of a 38-year-old patient with an intraarticular lesion, radiologically suspicious of tenosynovial giant cell tumor. Histology demonstrated a spindle cell lesion composed of fibroblasts/myofibroblasts embedded in a highly collagenous/hyalinized stroma, partly arranged in short fascicles. Extravasated erythrocytes and rare mitotic figures were present. Immunohistochemically, tumor cells expressed smooth muscle actin and were negative for desmin, β-catenin, CD34, and SOX10. These findings rendered the diagnosis of NF. Molecular analysis using next-generation sequencing (Archer FusionPlex Sarcoma Panel) revealed gene rearrangement involving USP6 and MYH9 supporting the diagnosis of NF in the knee joint. Conclusions. Radiological and histological features of NF can overlap with other benign and low-grade malignant lesion. Identification of the USP6 gene rearrangements or finding of the MYH9-USP6 fusion, especially in core needle biopsies and in the lesions occurring at unusual sites, can result in adequate therapeutic approach avoiding overtreatment.

Publisher

SAGE Publications

Subject

Pathology and Forensic Medicine,Surgery,Anatomy

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