Exome sequencing reveals candidate mutations implicated in sinonasal carcinoma and malignant transformation of sinonasal inverted papilloma. (January 2022)

• Record Type: Journal Article
• Authors: Viitasalo, Sanna; Karhemo, Piia-Riitta; Väänänen, Juho; Ilmarinen, Taru; Lilja, Markus; Katainen, Riku; Monni, Outi; Aaltonen, Leena-Maija
• Is Part Of: Oral oncology. Volume 124(2022)
• Publication Date: 2022-01
• Subjects: Exome sequencing -- Genetic mutation -- Head and neck squamous cell carcinoma -- Head and neck cancer -- Inverted papilloma -- Sinonasal papilloma -- FGFR3 -- Somatic variant analysis; SNIP sinonasal inverted papilloma -- SNSCC sinonasal squamous cell carcinoma -- HNSCC head and neck squamous cell carcinoma -- SNV single-nucleotide variant -- COSMIC Catalogue of Somatic Mutations in Cancer -- HPV human papillomavirus; Mouth -- Cancer -- Periodicals; Mouth -- Tumors -- Periodicals; Mouth Diseases -- Periodicals; Mouth Neoplasms -- Periodicals; Bouche -- Cancer -- Périodiques; Bouche -- Tumeurs -- Périodiques; Tumeurs -- Périodiques; Electronic journals; 616.9943105
• DOI: 10.1016/j.oraloncology.2021.105663
• Languages: English
• ISSNs: 1368-8375

Abstract

Highlights: Mutations in FGFR3 were identified in one pair of SNIP/SNSCC and in one SNSCC sample. 23 mutated genes with an impact on protein function and without a previous link to SNSCC were detected. Dysplastic SNIP specimens harbored few mutations in most commonly mutated genes in HNSCC. Abstract: We explored somatic mutations in dysplastic sinonasal inverted papilloma (SNIP), SNIP with concomitant sinonasal squamous cell carcinoma (SNSCC), and SNSCC without preceding SNIP. Ten SNIP and SNSCC samples were analyzed with exome sequencing and tested for human papillomavirus. The identified mutations were compared to the most frequently mutated genes in head and neck squamous cell carcinoma (HNSCC) in the COSMIC database. Exome sequencing data were also analyzed for mutations not previously linked to SNSCC. Seven of the most commonly mutated genes in HNSCC and SNSCC in COSMIC harbored mutations in our data. In addition, we identified mutations in 23 genes that are likely to contribute to SNIP and SNSCC oncogenesis.