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Case Report: Painful EWSR1::SMAD3-Positive fibroblastic tumor invading bone

Year: 2023

Type: article

Abstract: We present the case of a 34-year-old man with a painful EWSR1::SMAD3-positive fibroblastic tumor occurred in the subcutaneous tissue of the left first toe. Having a 4-year history of pain and a small soft tissue tumor in the subungual region, he underwent tumor resection twice elsewhere. However, the tumor relapsed, and the patient was referred to our hospital. A radiological examination revealed that the tumor invaded the cortex of the first distal phalanx. The tumor consisted of bland spindle cell proliferation showing diffuse staining for ERG. Targeted RNA sequencing identified EWSR1::SMAD3 fusion, and EWSR1 rearrangement was confirmed using fluorescence in situ hybridization. The tumor was removed with a marginal margin. Simultaneously, the eroded phalanx was partially resected. The lesson is that the clinical presentation of this entity can be a painful soft tissue tumor harboring a potential to extend from the superficial soft part to bone.

Source: JOS Case Reports

DOI: 10.1016/j.joscr.2023.08.005