The genomic, genetic and cellular events regulating the onset, growth and survival of rare, choroid plexus neoplasms remain poorly understood. Here, we examine the heterogeneity of human choroid plexus tumors by single-nucleus transcriptome analysis of 23,906 cells from four disease-free choroid plexus and eleven choroid plexus tumors. The resulting expression atlas profiles cellular and transcriptional diversity, copy number alterations, and cell-cell interaction networks in normal and cancerous choroid plexus. In choroid plexus tumor epithelial cells, we observe transcriptional changes that correlate with genome-wide methylation profiles. We further characterize tumor type-specific stromal microenvironments that include altered macrophage and mesenchymal cell states, as well as changes in extracellular matrix components. This first single-cell dataset resource from such scarce samples should be valuable for divising therapies against these little-studied neoplasms.

中文翻译：

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脉络丛肿瘤细胞异质性的单核 RNA-seq 解剖。


调节罕见脉络丛肿瘤发生、生长和存活的基因组、遗传和细胞事件仍然知之甚少。在这里，我们通过对来自 4 个无病脉络丛肿瘤和 11 个脉络丛肿瘤的 23,906 个细胞进行单核转录组分析来检查人脉络丛肿瘤的异质性。所得表达图谱分析了正常和癌性脉络丛中的细胞和转录多样性、拷贝数改变和细胞间相互作用网络。在脉络丛肿瘤上皮细胞中，我们观察到与全基因组甲基化谱相关的转录变化。我们进一步表征了肿瘤类型特异性基质微环境，包括改变的巨噬细胞和间充质细胞状态，以及细胞外基质成分的变化。来自如此稀缺样本的第一个单细胞数据集资源对于针对这些鲜为人知的肿瘤的治疗应该很有价值。