Objective: Juvenile nasopharyngeal angiofibroma (JNA) is a rare vascular tumor of unknown etiology. Studies investigating the molecular and genetic determinants of JNA are limited by small sample size and inconsistent approaches. The purpose of this study is to examine all eligible JNA studies in aggregate, applying qualitative analysis to highlight areas of particular relevance, including potential targets for therapeutic intervention. Methods: The PubMed, MEDLINE, Embase, Web of Science, Cochrane, and CINAHL databases were screened with inclusion and exclusion criteria applied to all citations. Manuscripts investigating the genetic determinants, histopathogenesis, and heritability of juvenile nasopharyngeal angiofibroma were included. Non-English studies, case reports, and articles focusing on clinical management without original data were excluded. Full text articles were obtained. A qualitative synthesis of data was performed. Results: A total of 59 articles met criteria for inclusion. These were divided into 6 categories based on the primary topic or target discussed, (1) steroid hormone receptors, (2) chromosomal abnormalities, (3) growth factors, (4) genetic targets, (5) molecular targets, (6) Wnt cell signaling, and (7) studies that overlapped multiple of the aforementioned categories. Although relatively low n values prevent definitive conclusions to be drawn, a predominance of certain molecular targets such as vascular endothelial growth factor (VEGF) and Wnt/β-catenin pathway intermediaries is apparent. Conclusions: Although the etiology of JNA remains elusive, contemporary molecular genetic investigation holds promise for risk stratification and could form the basis of a modernized staging system. A multicenter clinical registry and linked tissue bank would further promote the search for JNA specific biomarkers.

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Radiological evidence of extension of a substernal goitre to the aortic knuckle, or loss of tissue planes on computed tomography, should raise suspicion that the patient may require sternotomy for safe delivery of the gland. The otolaryngologist should plan surgery for these patients in a specialist centre, with the help of a thoracic surgeon.

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