Cutaneous rhabdomyosarcoma with FUS::TFCP2 fusion: A case report emphasizing early detection

Area of Science:

• Oncology
• Pathology
• Genetics

Background:

• Rhabdomyosarcoma with TFCP2 rearrangement is a rare malignant neoplasm.
• It is characterized by rhabdomyoblastic differentiation, keratin expression, and ALK upregulation.
• This tumor typically affects craniofacial bones, with rare extra-osseous presentations.

Observation:

• A case of cutaneous rhabdomyosarcoma with FUS::TFCP2 fusion in a 35-year-old female is presented.
• The tumor initially mimicked sclerosing dermatitis.
• It progressed to a high-grade malignant tumor within 8 months.

Findings:

• The neoplasm showed a distinctive immunoprofile.
• Molecular studies are essential for diagnosis, even with low-grade cytomorphology.
• The FUS::TFCP2 fusion was identified in this cutaneous tumor.

Implications:

• Early molecular diagnosis is critical for rhabdomyosarcoma with TFCP2 rearrangement.
• Timely detection allows for surgical resection before the tumor becomes unresectable.
• Recognizing the varied presentation is key for effective management of this aggressive cancer.