Investigation of PDGFRA Gene Pathogenic Variants in Nasal Polyps Associated With Chronic Rhinosinusitis

Abstract

Background

Chronic rhinosinusitis (CRS) with nasal polyps is an inflammatory condition of the nasal mucosa accompanied by significant tissue remodeling. It is characterized by a type 2 inflammatory response and epithelial barrier dysfunction. Platelet-derived growth factor receptor alpha (PDGFRA) is a proto-oncogene that encodes a receptor tyrosine kinase for which platelet-derived growth factor-A (PDGFA) is a specific ligand. Immunoexpression of PDGFRA and upregulation of PDGFRA and PDGFA mRNAs have been demonstrated in CRS with nasal polyps, suggesting they participate in the pathophysiology of such lesions. PDGFRA pathogenic variants have been reported in inflammatory fibroid polyps, as well as in gastrointestinal stromal tumors. Although the pathogenesis of CRS with nasal polyps has been extensively studied, it remains unclear whether nasal polyps harbor genetic mutations. Therefore, herein we investigated the presence of PDGFRA pathogenic variants in nasal polyps occurring in the context of CRS.

Methods

Fourteen CRS with nasal polyp samples were Sanger sequenced, targeting PDGFRA exons 12 and 18.

Results

All samples exhibited wild-type sequences for the PDGFRA sequenced regions.

Conclusion

These findings suggest that, unlike inflammatory fibroid polyps occurring in the gastrointestinal tract, the pathogenesis of nasal polyps occurring in CRS does not involve PDGFRA mutations.