EGFR and KRAS mutations in Chinese patients with sinonasal inverted papilloma and oncocytic papilloma.

Abstract

Sinonasal inverted papilloma (SIP) and sinonasal oncocytic papilloma (SOP) are uncommon, benign epithelial neoplasms located in the sinonasal region, that have the potential for malignant transformation. A recent study reported that EGFR and KRAS mutations occurred in the majority of Western patients with SIP and SOP, respectively. The aims of this study were to investigate the prevalence of KRAS and EGFR mutations in Chinese SIP and SOP patients, and to study the association between molecular alterations and their clinical features. We retrospectively collected 80 sinonasal papilloma specimens, including 44 cases with SIP, 33 cases with SOP, and three cases with mixed sinonasal papilloma, which harboured elements of both inverted and oncocytic types. Formalin-fixed paraffin-embedded tissues were used to extract genomic DNA, and EGFR and KRAS mutations were evaluated with direct Sanger sequencing. Thirty-five (78%) SIP patients harboured EGFR mutations, and all mutations were exon 20 insertions, whereas no KRAS mutations were detected. In contrast, KRAS mutations were detected in 82% of SOP patients, but no EGFR mutations were detected. Among the three mixed-type cases, two harboured both EGFR exon 20 insertions and KRAS mutations. Another case harboured a KRAS mutation, but no EGFR mutation was detected. SIP and SOP are two clinical entities with different genetic mutational patterns of EGFR and KRAS. Mixed types with elements of both SIP and SOP may harbour both EGFR and KRAS mutations.