CDKN2A
癌症研究
内翻性乳头状瘤
生物
乳头状瘤
表皮生长因子受体
恶性转化
癌
医学
癌症
病理
遗传学
作者
Ryutaro Uchi,Rina Jiromaru,Ryuji Yasumatsu,Hidetaka Yamamoto,Takahiro Hongo,Tomomi Manako,Kuniaki Sato,Kazuki Hashimoto,Takahiro Wakasaki,Masaki Matsuo,Takashi Nakagawa
标识
DOI:10.21873/anticanres.14752
摘要
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.
科研通智能强力驱动
Strongly Powered by AbleSci AI