Whole-exome sequencing analysis of patient derived organoids and its parental tumor tissue

We assessed whether organoids maintained the gene mutation signatures of their parental tumor. We performed Whole-exome sequencing (WES) analysis in one patient who had diagonsed as rectal adenocarcinoma. Total DNA of organoids and their parental tissues were extracted at day 7 and day 0, respectively. The results show that The tumor-derived organoids were found comprising a highly overlapped (over 97%) single nucleotide variants (SNV) profile with their parental tumor tissue. For the oncogene dataset comprising 731 genes, we found 16 genetic mutations in the P31 organoids and 15 genetic mutations in the parental tumor tissue. It suggests that the organoids recapitulated the genetic information of the parental tumor. .

我们评估了类器官（organoids）是否保留了其亲本肿瘤的基因突变特征。我们对1名确诊为直肠腺癌的患者开展了全外显子组测序（Whole-exome sequencing, WES）分析，分别于第7天和第0天提取类器官及其亲本肿瘤组织的总DNA。结果显示，肿瘤来源的类器官与其亲本肿瘤组织的单核苷酸变异（single nucleotide variants, SNV）谱重叠度极高（超过97%）。在包含731个基因的癌基因数据集内，我们在P31类器官中检出16个基因突变，在其亲本肿瘤组织中检出15个基因突变。这表明类器官能够重现亲本肿瘤的遗传信息。