基于全外显子组测序对头皮皮脂腺癌的基因分析  

Gene Analysis for the Sebaceous Carcinoma of Scalp by Whole Exome Sequencing

作　　者：郑奔容[1,2] 王一娜 江博雄[1] 梁亚乐[2] 蔡胜军 张娜娜 ZHENG Ben-rong;WANG Yi-na;JIANG Bo-xiong;LIANG Ya-le;CAI Sheng-jun;ZHANG Na-na(VIP Medical Service Center,The Third Affiliated Hospital of Sun Yat-sen University,Guangzhou 510630,China;Health Management Center,The People’s Hospital of Nyingchi,Nyingchi 860000,China;Department of Pathology,The Third Affiliated Hospital of Sun Yat-sen University,Guangzhou 510630,China)

机构地区：[1]中山大学附属第三医院特诊医疗中心,广东广州510630 [2]林芝市人民医院健康管理中心,西藏林芝860000 [3]中山大学附属第三医院病理科,广东广州510630

出　　处：《中山大学学报（医学科学版）》2023年第4期712-717,共6页Journal of Sun Yat-Sen University:Medical Sciences

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】在全外显子组水平对比头皮皮脂腺癌(SC)和头皮皮脂腺瘤(SA)的相关致病性基因突变的差异。【方法】对经过病理诊断的头皮SC和SA样本各1例,利用Illumina HiSeq 2500平台进行全外显子组测序(WES)。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软件来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】经过对比发现,与头皮SA相比,SC存在两个驱动基因ACVR1B和TFDP1的基因突变。【结论】头皮SC驱动基因ACVR1B和TFDP1的基因突变如果能在更大的病例队列中得到证实,对其发生的可能机制以及治疗靶点有重要的意义。【Objective】To reveal the differences of the related pathogenicity gene mutations between sebaceous adeno⁃carcinoma(SC)of scalp and sebaceous adenoma(SA)of scalp on whole exome level.【Methods】Whole exome sequencing was performed on a SC sample and a SA sample by Illumina Hiseq 2500 platform.Suspicious single nucleotide variation sites were selected for mutation conservation and functional analysis.SciClone 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 sample were screened by MutSigCV software,and compared with the known driver genes.【Results】Two driver genes TFDP1 and ACVR1B harboring mutations in scalp SC compared to SA were found.【Conclusions】The finding of mutation in driver genes TFDP1 and ACVR1B should be confirmed in a large cohort,which might reveal the mechanism of scalp SC development and find a therapeutic target for SC.

关 键 词：头皮皮脂腺癌 全外显子组测序 驱动基因 激活素受体1B 转录因子Dp1 突变 

分 类 号：R739.5[医药卫生—肿瘤]