EWSR1-SMAD3 positive fibroblastic tumor

Abstract

We present a case of EWSR1-SMAD3 positive fibroblastic tumor that occurred in a 24-year-old man who presented with a recurrent tumor in the dorsum of his right foot. Magnetic resonance imaging (MRI) demonstrated a subcutaneous nodule located in the third metatarsophalangeal joint region, measuring 10 × 8 × 5 mm in size. Histological examination revealed a monomorphic spindle cell tumor composed of cellular fascicles of bland fibroblasts with hyalinization. Immunohistochemically, the tumor showed diffuse nuclear staining of ERG. Fluorescence in situ hybridization (FISH) assessment demonstrated an unbalanced rearrangement of the EWSR1 gene. Further next-generation sequencing (NGS) analysis identified EWSR1-SMAD3 gene fusion. Molecular detection may be helpful for identifying new entities, in particular to those that lack lineage-specific differentiation by conventional pathological examinations.

Keywords: EWSR1-SMAD3; Fibroblastic tumor; Fluorescence in situ hybridization; Next-generation sequence.