Exome sequencing reveals candidate mutations implicated in sinonasal carcinoma and malignant transformation of sinonasal inverted papilloma

Sanna Viitasalo; Piia-Riitta Karhemo; Juho Väänänen; Taru Ilmarinen; Markus Lilja; Riku Katainen; Outi Monni; Leena-Maija Aaltonen

doi:10.1016/j.oraloncology.2021.105663

Exome sequencing reveals candidate mutations implicated in sinonasal carcinoma and malignant transformation of sinonasal inverted papilloma

Oral Oncol. 2022 Jan:124:105663. doi: 10.1016/j.oraloncology.2021.105663. Epub 2021 Dec 13.

Authors

Sanna Viitasalo¹, Piia-Riitta Karhemo², Juho Väänänen³, Taru Ilmarinen⁴, Markus Lilja⁴, Riku Katainen⁵, Outi Monni⁶, Leena-Maija Aaltonen⁴

Affiliations

¹ Department of Otorhinolaryngology - Head and Neck Surgery, University of Helsinki and Helsinki University Hospital, Helsinki, Finland. Electronic address: [email protected].
² Applied Tumor Genomics Research Program, Faculty of Medicine, University of Helsinki, Helsinki, Finland; iCAN Digital Precision Cancer Medicine Flagship, Helsinki, Finland.
³ Applied Tumor Genomics Research Program, Faculty of Medicine, University of Helsinki, Helsinki, Finland.
⁴ Department of Otorhinolaryngology - Head and Neck Surgery, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.
⁵ Applied Tumor Genomics Research Program, Faculty of Medicine, University of Helsinki, Helsinki, Finland; Medicum/Department of Medical and Clinical Genetics, University of Helsinki, Helsinki, Finland.
⁶ Applied Tumor Genomics Research Program, Faculty of Medicine, University of Helsinki, Helsinki, Finland; iCAN Digital Precision Cancer Medicine Flagship, Helsinki, Finland; Clinicum/Department of Oncology, Faculty of Medicine, University of Helsinki, Helsinki, Finland.

PMID: 34915258
DOI: 10.1016/j.oraloncology.2021.105663

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.

Keywords: Exome sequencing; FGFR3; Genetic mutation; Head and neck cancer; Head and neck squamous cell carcinoma; Inverted papilloma; Sinonasal papilloma; Somatic variant analysis.

Publication types

Letter

MeSH terms

Carcinoma, Squamous Cell* / pathology
Cell Transformation, Neoplastic / genetics
Exome
Humans
Mutation
Papilloma, Inverted* / genetics
Paranasal Sinus Neoplasms* / pathology
Squamous Cell Carcinoma of Head and Neck / genetics