Abstract
Rhabdomyosarcoma with TFCP2 rearrangement has recently been described as an aggressive tumor with a predilection for the craniofacial bones. We report three new cases with detailed clinicopathologic, immunohistochemical, and molecular descriptions. Case 1 is a 58-year-old male with a three-month history of painful swelling in the anterior maxilla. Case 2 is a 22-year-old male presenting with right facial swelling and proptosis. Case 3 is a 43-year-old female with a rapidly growing tumor located in the zygomatic region. Imaging exams revealed highly destructive intraosseous masses in cases 1-2 and a soft tissue tumor without bone involvement in case 3. Microscopically, all cases showed a hybrid spindle and epithelioid phenotype that were positive for desmin, myogenin and/or Myo-D1, cytokeratin, and ALK. FISH confirmed molecular alterations related to EWSR1/FUS-TFCP2 gene fusions in Cases 1-2. There was no available material for molecular study in case 3. The patients were subsequently referred to oncologic treatment. Rhabdomyosarcoma with TFCP2 rearrangement has recently been described as an aggressive tumor with a predilection for the craniofacial bones. We report three new cases with detailed clinicopathologic, immunohistochemical, and molecular descriptions. Case 1 is a 58-year-old male with a three-month history of painful swelling in the anterior maxilla. Case 2 is a 22-year-old male presenting with right facial swelling and proptosis. Case 3 is a 43-year-old female with a rapidly growing tumor located in the zygomatic region. Imaging exams revealed highly destructive intraosseous masses in cases 1-2 and a soft tissue tumor without bone involvement in case 3. Microscopically, all cases showed a hybrid spindle and epithelioid phenotype that were positive for desmin, myogenin and/or Myo-D1, cytokeratin, and ALK. FISH confirmed molecular alterations related to EWSR1/FUS-TFCP2 gene fusions in Cases 1-2. There was no available material for molecular study in case 3. The patients were subsequently referred to oncologic treatment.
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