腺样囊性癌基因检测panel的设计开发及数据分析

[摘要]　目的　根 据腺样囊性癌（a d e n o i d c y s t i c carcinoma，ACC）基因突变相关靶点，设计针对该疾病基 因突变检测的特定panel，总结该panel的检测结果，并对 89例基因检测数据分析。方法　根据文献对ACC发生发 展相关基因进行频率统计和意义分析，结合目前临床已应 用的其他肿瘤常见靶向药热点基因，设计30个相关基因检 测。本研究共完成89例临床样本检测，包括47例595个基 因panel检测，42例ACC30个特定基因panel检测，对样本 进行突变数据统计和总结。结果　常见突变MYB-NFIB 基因融合率38.2%（34/89），同时包含1例MYB基因单核 苷酸突变、2例插入缺失突变、3例ALK-NIFB基因融合突 变。NOTCH1突变率为9.0%（8/89），NOTCH2突变率为 4.5%（4/89）。ACC肿瘤突变负荷均值为1.6 mutations/Mb， MYB-NFIB基因的突变丰度均值为15%。结论　MYBNFIB融合突变是腺样囊性癌最常见的分子事件，panel涵 盖了ACC主要突变位点，常见突变位点频率与文献报道相 近，可为临床研究及疾病诊疗提供更经济高效的检测方式。

Design and development of panel for gene detection of adenoid cystic carcinoma and analysis of gene test data

ZHOU Mengjiao1 , WANG Xuelian1*, MA Tingyao1 , JIANG Lingyan1, 2, CAO Lin1 , CHEN Xiaohong1 1

Department of Otolaryngology Head and Neck Surgery, Beijing Tongren Hospital, Capital Medical University, Key Laboratory of Otolaryngology Head and Neck Surgery (Capital Medical University), Ministry of Education, Beijing, 100730, China; 2 Department of Otolaryngology, Beijing University of Chinese Medicine Third Affiliated Hospital, Beijing, 100029, China

*WANG Xuelian and ZHOU Mengjiao contributed aqually to this study Corresponding author: CHEN Xiaohong(Email: trchxh@163.com)

[ABSTRACT] OBJECTIVE According to the related targets of adenoid cystic cancer gene mutation, the study design a specific panel for the detection of gene mutation of the disease, summarize the detection results of the panel, and analyze the data of 89 cases of gene detection. METHODS According to literature, the study has performed the frequency statistics and significance analysis of genes related to the occurrence and development of ACC. Combined with other common targeted drug hot genes that have been used clinically, 30 related gene tests were designed. In this study, a total of 89 clinical samples were tested, including 47 cases of 595 gene panel detection, 42 cases of ACC 30 specific gene panel detection. The data of mutation was counted and summarized. RESULTS The common mutation MYBNFIB gene fusion rate was 38.2%(34/89), including 1 case of MYB gene single nucleotide mutation, 2 cases of insertion and deletion mutations, and 3 cases of ALK-NIFB gene fusion mutation. The mutation rate of NOTCH1 was 9.0%(8/89), and the mutation rate of NOTCH2 was 4.5% (4/89). The average mutation burden of ACC tumor was 1.6 mutations/Mb, and the average mutation abundance of MYB-NFIB gene was 15%. CONCLUSION MYB-NFIB fusion mutation is the most common molecular event in adenoid cystic carcinoma. This panel covers the main mutation sites of ACC. The frequency of common mutation sites is similar to that reported in the literature, which can provide more cost-effective detection for clinical research and disease diagnosis and treatment.

[Key words] Carcinoma, Adenoid Cystic; Genes; Mutation