Myoepithelial tumor with EWSR1-PBX3 fusion and rearrangement in rib and soft tissue: a rare case report

TL;DR

A rare case of myoepithelial tumor with EWSR1-PBX3 fusion in a 52-year-old male is reported, highlighting the importance of molecular testing for accurate diagnosis.

Contribution

This case report identifies EWSR1-PBX3 fusion and rearrangement in a MET of the rib and soft tissue, aiding in differential diagnosis.

Findings

The tumor exhibited EWSR1-PBX3 fusion confirmed by next-generation sequencing.

Immunohistochemistry showed positivity for S-100, EMA, SMA, and calponin.

The patient remained disease-free for two years after surgery and radiotherapy.

Abstract

Myoepithelial tumor (MET) is rare and heterogeneous. We present a case of a MET occurring in the rib and the soft tissue surrounding it. Further, the tumor has been reported to contain both EWSR1-PBX3 fusion and rearrangement. A 52-year-old male presented with worsening low back pain. Imaging showed osteolytic destruction of the left twelfth rib accompanied by a soft-tissue mass. Histopathology revealed spindle and oval tumor cells with mild atypia. The entity was positive for S-100, EMA, SMA and calponin by immunohistochemistry but negative for cytokeratin. Testing through next-generation sequencing (NGS) verified the presence of the EWSR1-PBX3 fusion and rearrangement. After surgical resection and post-operative radiotherapy, the patient remained disease-free for 2 years. The presence of EWSR1-PBX3 fusion and rearrangement in METs of bone and soft tissue is diagnostically significant. It is critical that molecular testing should be performed by clinicians, notably when distinguishing it from synovial sarcoma and other closely related entities.

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