Rhabdomyosarcoma (RMS) with TFCP2 rearrangement has been identified recently. This entity has a distinctive clinicopathologic features: a rapidly aggressive clinical course, a preference for the craniofacial bones, a spindle and epithelioid histomorphology, and positive immunohistochemistry for epithelial markers, ALK, and myogenic markers. RMS with TFCP2 rearrangement is rare and may be misdiagnosed as other spindle cell tumors. Here, we report a case of this entity arising in the mandible, which was initially diagnosed as ossifying fibroma in primary tumor in another hospital. A 26-year-old man presented with a recurred mass in the mandible for 1 month after the operation of mandibular tumor. The first excisional specimen was initially diagnosed as ossifying fibroma in another hospital. Histopathologic examination revealed the tumor with a hybrid spindle cell and epithelioid cytomorphology, spindle cells and spindle-to-epithelioid cells with eosinophilic and rich cytoplasm, with high-grade features, prominent nucleoli and some atypical mitosis. Immunohistochemical analysis revealed positivity for desmin, MYOD1, pan-keratin, ALK (5A4), ALK (D5F3). Based on the morphology and immunophenotype, molecular studies were performed, which revealed a FUS::TFCP2 fusion transcript, confirming the diagnosis of Rhabdomyosarcoma with FUS::TFCP2 fusion. Making a correct diagnosis is primarily dependent on awareness by the pathologist of this rare subtype of RMS and careful histopathological evaluation, supported by immunohistochemical and molecular analysis, to avoid potential diagnostic pitfalls.
Keywords: FUS::TFCP2 fusion; mandible; ossifying fibroma; rhabdomyosarcoma with TFCP2 fusion.