Orbital angioleiomyoma with GJA4 mutation mimicking cavernous venous malformation: a case report and comprehensive...

Orbital angioleiomyomas are rare benign tumors that can mimic orbital cavernous venous malformations (OCVM) due to overlapping radiological and histopathological features. We present the case of a 42-year-old woman with an apical orbital angioleiomyoma incidentally discovered during evaluation for migraines. Magnetic resonance imaging revealed a well-defined, gadolinium-enhancing intraconal mass, initially suggestive of OCVM. Surgical excision was performed via an endonasal endoscopic approach, achieving complete removal without recurrence. Histopathological analysis and molecular testing confirmed the diagnosis, identifying a somatic GJA4 (p.Gly41Cys) mutation.This case highlights the diagnostic challenge of distinguishing orbital angioleiomyomas from OCVM and emphasizes the importance of immunohistochemistry and molecular analysis, particularly GJA4 mutation screening, in achieving diagnostic accuracy. The identification of GJA4 mutations may assist clinicians and pathologists in better characterizing true angioleiomyomas, especially in cases where the distinction between OCVM and the cavernous subtype of angioleiomyoma is histologically ambiguous. Angioleiomyomas may be underrecognized in orbital pathology and could represent a subset of lesions previously classified as OCVM or intracranial meningiomas. A comprehensive, multimodal diagnostic approach is essential for appropriate classification and management of these tumors.