通过靶向扩增子测序分析鼻窦内翻性乳头状瘤恶变的基因突变。
Genetic mutation analysis of the malignant transformation of sinonasal inverted papilloma by targeted amplicon sequencing.
机构信息
Department of Otolaryngology, Head and Neck Surgery, Faculty of Medicine and Graduate School of Medicine, Hokkaido University, Kita 15, Nishi 7, Kita-ku, Sapporo, 060-8638, Japan.
Department of Otolaryngology, Yokohama City University Medical Center, Yokohama, Japan.
出版信息
Int J Clin Oncol. 2018 Oct;23(5):835-843. doi: 10.1007/s10147-018-1296-1. Epub 2018 May 19.
BACKGROUND
The mechanism underlying the malignant transformation of inverted papilloma (IP) has not yet been elucidated.
METHODS
To clarify the genes responsible for the malignant transformation, we analyzed 10 cases of IP, 8 of IP with dysplasia, and 11 of squamous cell carcinoma (SCC) by targeted amplicon sequencing.
RESULTS
The number of mutant genes increased in the order of IP < dysplasia < SCC. Significant differences were observed in the mutation rates of three genes (KRAS, APC and STK11) in particular. TP53 was altered frequently in each group and might be involved in malignant transformation based on to the site of the mutation. A comparison of the genetic variants by region of IP tissue among patients with IP alone, and those with dysplasia or SCC revealed significant differences in the mutation rate of the KRAS gene.
CONCLUSION
Identification of genetic mutations in KRAS is effective for predicting the malignant transformation of IP.
背景
目前尚未阐明促使内翻性乳头状瘤（IP）恶变的机制。
方法
为了明确导致恶变的相关基因，我们对 10 例 IP、8 例伴异型增生的 IP 和 11 例鳞状细胞癌（SCC）进行了靶向扩增子测序分析。
结果
突变基因的数量依次为 IP＜异型增生＜SCC。特别是 KRAS、APC 和 STK11 这三个基因的突变率存在显著差异。每个组中 TP53 均发生高频改变，且可能因突变部位而参与恶变。通过对单纯 IP 患者、伴异型增生或 SCC 的患者的 IP 组织区域的遗传变异进行比较，发现 KRAS 基因的突变率存在显著差异。
结论
KRAS 基因突变的鉴定有助于预测 IP 的恶变。
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