Genomic Sequencing of Cancer-related Genes in Sinonasal Squamous Cell Carcinoma and Coexisting Inverted Papilloma
Genomic Sequencing of Cancer-related Genes in Sinonasal Squamous Cell Carcinoma and Coexisting Inverted Papilloma
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DOI：
10.21873/anticanres.14752
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发表时间：
2021-01-01
影响因子：
2
通讯作者：
Nakagawa, Takashi
中科院分区：
文献类型：
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作者：
Uchi, Ryutaro;Jiromaru, Rina;Nakagawa, Takashi
背景：鼻窦内翻性乳头状瘤（SNIP）衍生的鳞状细胞癌（SCC）的遗传基础尚未很好地表征。目的：探讨SNIP及其衍生SCC的遗传异常特征，揭示其差异。材料与方法：采用扩增子靶向测序技术，对4例snp源性SCC患者的6个乳头瘤/癌样本中409个基因的突变进行分析。结果：多例患者中发生突变的基因为表皮生长因子受体（EGFR）（3/6）、细胞周期蛋白依赖性激酶抑制剂2A (CDKN2A)（3/6）、赖氨酸甲基转移酶2D (KMT2D)（3/6）、肿瘤蛋白p53 (TP53)（3/6）、神经纤维蛋白1 (NFl)（3/6）、磷酸二酯酶4D相互作用蛋白（PDE4DIP）（3/6）、细胞色素P450家族2亚家族D成员6 (CYP2D6)（2/6）、鳍相关受体酪氨酸激酶4 (FLT4)（2/6）和肌球蛋白重链9 (MYH9)（2/6）。在乳头状瘤-肿瘤癌对中分析的两个病例中，一个没有任何常见突变；另一组在SNIP向SCC恶性转化过程中，TP53出现阶段性功能缺失。结论：CDKN2A、KMT2D、NFl、PDE4DIP、CYP2D6、FLT4和MYH9是新的候选snp来源的scc相关基因。
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 (NFl) (3/6), phosphodiesterase 4D interacting protein (PDE4DIP) (3/6), cytochrome P450 family 2 subfamily D member 6 (CYP2D6) (2/6), fins-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, NFl, PDE4DIP, CYP2D6, FLT4, and MYH9 were identified as candidate novel SNIP-derived SCC-related genes.