Cancer Data Science Laboratory, National Cancer Institute, Center for Cancer Research, National Institutes of Health, Bethesda, Maryland.
Department of Computer Science, Indiana University, Bloomington, Indiana.
Cancer Res. 2021 Aug 1;81(15):3958-3970. doi: 10.1158/0008-5472.CAN-21-0427. Epub 2021 May 28.
Pancreatic ductal adenocarcinoma (PDAC) tumors can originate either from acinar or ductal cells in the adult pancreas. We re-analyze multiple pancreas and PDAC single-cell RNA-seq datasets and find a subset of nonmalignant acinar cells, which we refer to as acinar edge (AE) cells, whose transcriptomes highly diverge from a typical acinar cell in each dataset. Genes upregulated among AE cells are enriched for transcriptomic signatures of pancreatic progenitors, acinar dedifferentiation, and several oncogenic programs. AE-upregulated genes are upregulated in human PDAC tumors, and consistently, their promoters are hypomethylated. High expression of these genes is associated with poor patient survival. The fraction of AE-like cells increases with age in healthy pancreatic tissue, which is not explained by clonal mutations, thus pointing to a nongenetic source of variation. The fraction of AE-like cells is also significantly higher in human pancreatitis samples. Finally, we find edge-like states in lung, liver, prostate, and colon tissues, suggesting that subpopulations of healthy cells across tissues can exist in pre-neoplastic states. SIGNIFICANCE: These findings show "edge" epithelial cell states with oncogenic transcriptional activity in human organs without oncogenic mutations. In the pancreas, the fraction of acinar cells increases with age.
胰腺导管腺癌 (PDAC) 肿瘤可起源于成人胰腺中的腺泡或导管细胞。我们重新分析了多个胰腺和 PDAC 单细胞 RNA-seq 数据集,发现了一小部分非恶性腺泡细胞,我们称之为腺泡边缘 (AE) 细胞,其转录组在每个数据集与典型腺泡细胞高度不同。在 AE 细胞中上调的基因富集了胰腺祖细胞、腺泡去分化和几个致癌程序的转录组特征。AE 上调基因在人类 PDAC 肿瘤中上调,并且其启动子一致地低甲基化。这些基因的高表达与患者生存不良相关。在健康胰腺组织中,AE 样细胞的比例随年龄增长而增加,这不能用克隆突变来解释,因此指向非遗传变异源。AE 样细胞的比例在人类胰腺炎样本中也显著更高。最后,我们在肺、肝、前列腺和结肠组织中发现了类似边缘的状态,表明跨组织的健康细胞亚群可能存在癌前状态。意义:这些发现表明,在没有致癌突变的人类器官中存在具有致癌转录活性的“边缘”上皮细胞状态。在胰腺中,腺泡细胞的比例随年龄增长而增加。