Intraosseous Spindle Cell/Epithelioid Rhabdomyosarcoma with <i>TFCP2</i> Rearrangement: A Recent Recognized Subtype with Partial Response to Alectinib

Abstract

Rhabdomyosarcoma affects mainly pediatric patients and is currently classified into four categories: embryonal, alveolar, pleomorphic, and spindle cell/sclerosing. Recently, a molecular group of spindle cell/sclerosing rhabdomyosarcoma demonstrated new fusion transcripts involving <i>FET</i>-family genes with <i>TFCP2</i>. In this report, we describe a rare case of spindle cell/sclerosing rhabdomyosarcoma in a 19-year-old woman, presenting as a destructive lesion involving the condyle of mandible. Next generation sequencing was performed, revealing a <i>FUS::TFCP2</i> fusion and deletion of <i>ALK</i> gene. Alectinib therapy was initiated, which resulted in a favorable response for 4 months. However, the patient died due progression of the tumor. To make an accurate diagnosis and ensure appropriate patient management, it is necessary to be aware of this variant and use proper immunohistochemical stains when facing malignant mesenchymal bone lesions, expanding its differential diagnosis.