腮腺皮脂腺癌的全外显子组基因测序结果分析  

Whole exome sequencing analysis for sebaceous carcinoma of the parotid gland

作　　者：郑奔容[1] 江博雄[1] 王一娜[1] 杨茂生 梁亚乐 王玉娥 Zheng Benrong;Jiang Boxiong;Wang Yina;Yang Maosheng;Liang Yale;Wang Yu’e(VIP Medical Service Center,the Third Affiliated Hospital of Sun Yat-sen University,Guangzhou 510630,China;不详)

机构地区：[1]中山大学附属第三医院特诊医疗中心,广州510630 [2]林芝市人民医院健康管理中心,林芝860000 [3]林芝市人民医院全科医学科,林芝860000

出　　处：《新医学》2023年第10期728-733,共6页Journal of New Medicine

基　　金：国家自然科学基金(81902416);广东省自然科学基金(2018A0303130324)。

摘　　要：目的 在全外显子组水平分析腮腺皮脂腺癌(SC)可能的相关致病性基因突变。方法 收集经病理学检查确诊的腮腺SC和头皮皮脂腺腺瘤(SA)样本各1例,利用Illumina HiSeq 2500平台进行全外显子组测序。筛选可疑的单核苷酸变异位点,进行突变的保守性和功能分析。利用SciClone软件追踪亚克隆进化可以得到每例肿瘤样本的克隆性图谱信息。通过MutSigCV软件筛选得到高频显著基因,将体细胞变异与已知驱动基因进行比较,筛选出该肿瘤样本中的已知驱动基因。结果 与头皮SA相比,腮腺SC存在57个驱动基因突变。结论 腮腺SC存在不同于良性肿瘤的基因突变及突变的模式。Objective To analyze potential pathogenic gene mutations related to sebaceous carcinoma(SC)of the parotid gland by whole exome sequencing(WES).Methods One sample from a patient pathologically diagnosed with SC of the parotid gland and 1 sample from 1 patient with sebaceous adenoma(SA)of scalp were collected and prepared for WES by Illumina Hiseq 2500 platform.Suspicious single nucleotide variation sites were selected for mutation conservation and functional analysis.SciClone software was used to track subclone evolution and clonal map information was obtained for each tumor sample.The high-frequency significant gene mutations in the tumor samples were screened by MutSigCV software,and compared with the known driver genes.Results There were 57 driver genes harboring mutations in SC of the parotid gland compared to those of SA of the scalp.Conclusion SC of the parotid gland yields gene mutations and mutation patterns different from malignant tumors.

关 键 词：腮腺皮脂腺癌 全外显子组测序 驱动基因 突变 

分 类 号：R739.5[医药卫生—肿瘤]