Genetic alterations in juvenile nasopharyngeal angiofibromas

Juvenile nasopharyngeal angiofibroma (JNA) is a rare benign neoplasm of the nasopharynx that accounts for 0.5% of all head and neck tumors. Although histologically benign in appearance, JNAs are locally aggressive and destructive, spreading from the nasal cavity to the nasopharynx, paranasal sinuses, and orbit skull base with intracranial extension. The gender selectivity of JNA and the relatively young age at diagnosis suggest hormone-dependent development. Hormonal disorders have been reported in patients with JNA, and androgen and estrogen receptors have been identified in tumor tissue; however, a hormonal influence on JNA is controversial. Recent studies have attempted to further delineate the pathogenesis of JNA through analysis of genetic and molecular changes. Understanding of the molecular mechanisms involved in JNA might improve prevention, prognosis, and treatment of this tumor. In this review, we discuss published studies addressing the possible molecular pathways that might be involved in the development of JNA.