Aneurysmal Bone Cyst of the Maxillary Sinus with USP6 Rearrangement: Case Report of a Rare Entity and Review of the Literature

Aneurysmal bone cysts (ABCs) are benign lesions which most frequently occur in the long bones of pediatric patients. Long thought to be reactive, recent molecular advances have demonstrated that the majority of primary ABCs harbor rearrangements of the USP6 gene, confirming their neoplastic nature. Secondary ABCs arising from other lesions do not demonstrate this recurrent genetic anomaly. ABCs rarely occur in the craniofacial bones, and sinonasal ABCs are exceedingly rare. We report a case of a primary ABC arising the maxillary sinus of a 14-year-old female, which was found to harbor USP6 rearrangement. We describe the clinical, radiologic, and pathologic features of this case, and review the current literature on craniofacial ABCs. Careful histologic evaluation and genetic studies are warranted in order to confirm the rare occurrence of a primary sinonasal ABC.