Intraosseous rhabdomyosarcoma of the maxilla with TFCP2 fusion: A rare aggressive subtype with predilection for the gnathic bones

Rhabdomyosarcomas (RMS) are malignant tumors with skeletal muscle differentiation extremely rare in intraosseous sites. We reported a rare case of an aggressive intraosseous RMS found in the maxilla of a 17-year-old female patient with five months of evolution. Computed tomography revealed a large osteolytic lesion extending from tooth 21 to 27, causing buccal and lingual cortical plate perforation. Microscopically, the lesion showed a proliferation of spindle-shaped cells with elongated nuclei and eosinophilic cytoplasm, arranged in an interlaced fascicle pattern. The nuclei ranged from vesicular with distinct nucleoli to hyperchromatic. A focal component of plump to epithelioid cells with a moderate amount of eosinophilic cytoplasm was seen at the periphery of the tumor. The immunohistochemical analysis revealed positivity for desmin, MyoD1, and myogenin (scattered cells). S-100, SOX10, HMB45, beta-catenin, and CD34 were negative. Ki-67 was positive in 30% of tumor cells. Fluorescence in situ hybridization (FISH) analysis showed the presence of a FUS-TFCP2 fusion. The diagnosis was intraosseous RMS with TFCP2 fusion. Surgical excision followed by chemo- and radiotherapy was carried out; however, the patient died of disease nine months after the treatment. Because of the rarity and nonspecific signs and symptoms, the clinical diagnosis of intraosseous RMS is difficult and often overlooked. Therefore, careful histopathological evaluation, supported by immunohistochemical and molecular analysis, is essential to correct diagnosis. Early surgical excision with tumor-free margins and prolonged follow-up are strongly recommended.

Automated summary

This article reports a rare case of intraosseous RMS in the maxilla, which presents as a large osteolytic lesion and is often misdiagnosed clinically. Histopathology and immunohistochemistry can aid in the correct diagnosis, highlighting the importance of early surgical excision and long-term follow-up.