PT  - JOURNAL ARTICLE
AU  - RYUTARO UCHI
AU  - RINA JIROMARU
AU  - RYUJI YASUMATSU
AU  - HIDETAKA YAMAMOTO
AU  - TAKAHIRO HONGO
AU  - TOMOMI MANAKO
AU  - KUNIAKI SATO
AU  - KAZUKI HASHIMOTO
AU  - TAKAHIRO WAKASAKI
AU  - MIOKO MATSUO
AU  - TAKASHI NAKAGAWA
TI  - Genomic Sequencing of Cancer-related Genes in Sinonasal Squamous Cell Carcinoma and Coexisting Inverted Papilloma
AID  - 10.21873/anticanres.14752
DP  - 2021 Jan 01
TA  - Anticancer Research
PG  - 71--79
VI  - 41
IP  - 1
4099  - http://ar.iiarjournals.org/content/41/1/71.short
4100  - http://ar.iiarjournals.org/content/41/1/71.full
SO  - Anticancer Res2021 Jan 01; 41
AB  - 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.