Successful Surgical Treatment of Pediatric FUS :: TFCP2 -Positive Rhabdomyosarcoma of the Mandible: A Case Report

Key findings from this study

• The study found that FUS::TFCP2-positive rhabdomyosarcoma demonstrates resistance to standard chemotherapeutic regimens in this pediatric patient with mandibular involvement.
• The authors report that radical surgical resection including segmental mandibulectomy and free flap reconstruction resulted in disease-free survival at 18 months despite minimal chemotherapeutic response.
• The researchers demonstrate that early molecular diagnosis and prompt surgical intervention are crucial clinical priorities for managing this chemoresistant malignancy.

Overview

FUS::TFCP2-positive rhabdomyosarcoma represents a recently classified distinct subtype of pediatric rhabdomyosarcoma demonstrating chemoresistance to conventional regimens. This case report documents an 11-year-old male with mandibular rhabdomyosarcoma harboring the FUS::TFCP2 fusion gene.

Methods and approach

The patient presented with mandibular rhabdomyosarcoma and initially received standard induction chemotherapy. Following minimal response, the surgical team performed radical resection including segmental mandibulectomy with reconstruction using a rectus abdominis free flap. Histological examination evaluated the surgical specimen for chemotherapeutic response.

Results

Histological analysis of the resected tumor revealed viable tumor tissue with minimal chemotherapeutic response, confirming chemoresistance. The patient achieved disease-free status persisting for 18 months following surgery. Early pathological diagnosis identifying the FUS::TFCP2 fusion facilitated prompt surgical intervention.

Implications

Chemoresistance of FUS::TFCP2-positive rhabdomyosarcoma necessitates alternative treatment paradigms beyond conventional chemotherapy protocols. Surgical resection emerges as a critical intervention for managing this aggressive subtype, particularly when chemotherapy demonstrates inadequate response. Accurate molecular characterization through fusion gene detection enables treatment stratification and informs clinical decision-making in pediatric rhabdomyosarcoma management.

The chemoresistant phenotype of FUS::TFCP2-positive disease underscores the importance of early pathological diagnosis. Prompt recognition of this molecular subtype allows clinicians to de-escalate or modify chemotherapy and proceed rapidly to definitive surgical management. Integration of molecular profiling into diagnostic protocols for pediatric rhabdomyosarcoma may improve outcomes by facilitating expedited surgical intervention.

This case contributes to understanding treatment strategies for FUS::TFCP2-positive rhabdomyosarcoma, a rare entity with limited established management protocols. The favorable long-term outcome following radical resection suggests that surgery may constitute the primary curative intervention for chemoresistant disease. Further investigation into optimal multimodal approaches for this molecular subtype remains warranted.

Scope and limitations

This summary is based on the study abstract and available metadata. It does not include a full analysis of the complete paper, supplementary materials, or underlying datasets unless explicitly stated. Findings should be interpreted in the context of the original publication.