Progressive Metastatic Cutaneous <i>TFCP2::FUS</i> Fusion-Positive Rhabdomyosarcoma: A Case Report.

ABSTRACT:

Introduction

Rhabdomyosarcoma (RMS) rarely exhibits the TFCP2::FUS gene fusion and is even more rarely present as multiple cutaneous lesions.

Case presentation

We describe the case of a 48-year-old man who presented with multiple cutaneous masses eroding through the skin as well as visceral metastases following two previous resections for cutaneous neoplasms. Histopathology showed spindle morphology and positive staining for keratins, desmin, MYOD1, and myogenin. Genetic sequencing showed a noncanonical TFCP2::FUS fusion that, in combination with the immunohistochemistry, was diagnostic of RMS. He was treated with vincristine, dactinomycin, and cyclophosphamide, followed by cabozantinib and pembrolizumab, and finally pembrolizumab and concurrent radiation thera

SUBMITTER: Reich D 

PROVIDER: S-EPMC12807499 | biostudies-literature | 2026 Jan-Dec

REPOSITORIES: biostudies-literature