RT Journal Article
SR Electronic
T1 Genomic Sequencing of Cancer-related Genes in Sinonasal Squamous Cell Carcinoma and Coexisting Inverted Papilloma
JF Anticancer Research
JO Anticancer Res
FD International Institute of Anticancer Research
SP 71
OP 79
DO 10.21873/anticanres.14752
VO 41
IS 1
A1 RYUTARO UCHI
A1 RINA JIROMARU
A1 RYUJI YASUMATSU
A1 HIDETAKA YAMAMOTO
A1 TAKAHIRO HONGO
A1 TOMOMI MANAKO
A1 KUNIAKI SATO
A1 KAZUKI HASHIMOTO
A1 TAKAHIRO WAKASAKI
A1 MIOKO MATSUO
A1 TAKASHI NAKAGAWA
YR 2021
UL http://ar.iiarjournals.org/content/41/1/71.abstract
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.