【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。更多还原

【Abstract】 【Objective】 To reveal the differences of the related pathogenicity gene mutations between sebaceous adenocarcinoma(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.更多还原