Work

Progressive Metastatic Cutaneous TFCP2::FUS Fusion-Positive Rhabdomyosarcoma: A Case Report

Year: 2025

Type: article

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 therapy to the targetable lesions. He had a continual, rapid progression of disease and expired 2 months following radiation. Conclusion: This case is notable because it presents a rare example of an aggressive, TFCP2::FUS gene fusion-positive RMS presenting with multiple cutaneous metastases, and highlights that this entity is highly resistant to multiple chemotherapies, immunotherapy, and radiation therapy.

Source: Case Reports in Oncology

DOI: 10.1159/000549909

Authors: Dustine Reich, Fabrizio Remotti, Esperanza Villanueva-Siles, Shari R. Lipner, Igor Matushansky

Institutions: Weill Cornell Medicine, Columbia University Irving Medical Center, Montefiore Medical Center

Language: English

Topic: Sarcoma Diagnosis and Treatment

Subfield: Pulmonary and Respiratory Medicine

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $1,170