Genomic sequencing of cancer-related genes in sinonasal squamous cell carcinoma and coexisting inverted papilloma

RYUTARO UCHI, RINA JIROMARU, RYUJI YASUMATSU, HIDETAKA YAMAMOTO, TAKAHIRO HONGO, TOMOMI MANAKO, KUNIAKI SATO, KAZUKI HASHIMOTO, TAKAHIRO WAKASAKI, MIOKO MATSUO, TAKASHI NAKAGAWA

Research output: Contribution to journalArticlepeer-review

Abstract

Background: The genetic basis of sinonasal inverted papilloma (SNIP)-derived squamous cell carcinoma (SCC) has not yet been well characterized. Aim: To characterize the genetic abnormalities of SNIP and SNIP-derived SCC and to uncover their differences. Materials and Methods: Mutations of 409 genes were analyzed using amplicon targeted sequencing in a total of six papilloma/carcinoma samples from four patients with SNIP-derived SCC. Results: The genes that were mutated in multiple cases were epidermal growth factor receptor (EGFR) (3/6), cyclin-dependent kinase inhibitor 2A (CDKN2A) (3/6), lysine methyltransferase 2D (KMT2D) (3/6), tumor protein p53 (TP53) (3/6), neurofibromin 1 (NF1) (3/6), phosphodiesterase 4D interacting protein (PDE4DIP) (3/6), cytochrome P450 family 2 subfamily D member 6 (CYP2D6) (2/6), fms-related receptor tyrosine kinase 4 (FLT4) (2/6) and myosin heavy chain 9 (MYH9) (2/6). Of the two cases analyzed in the papilloma-oncology carcinoma pair, one did not have any common mutations; the other showed a staged functional deletion of TP53 during the process of malignant transformation from SNIP to SCC. Conclusion: CDKN2A, KMT2D, NF1, PDE4DIP, CYP2D6, FLT4, and MYH9 were identified as candidate novel SNIP-derived SCC-related genes.

Original languageEnglish
Pages (from-to)71-79
Number of pages9
JournalAnticancer research
Volume41
Issue number1
DOIs
Publication statusPublished - Jan 2021

All Science Journal Classification (ASJC) codes

  • Oncology
  • Cancer Research

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