Single-Cell RNA-seq analysis of small intestine neuroendocrine tumors reveals the cell of origin and trajectory of gene-expression associated with the early tumor development

A hereditary form of small intestinal neuroendocrine tumors (SI-NET) presents with multiple synchronous primary tumors and accompanying tumor precursors at varying stages of development. Capitalizing on this germline property, we conducted single-cell RNA sequencing analysis to identify the cell-of-origin and explore the trajectory of gene expression associated with the early tumor development. The results of the current study may enhance our understanding of the genesis and development of SI-NETs and improve diagnostic, preventive, and therapeutic strategies. Overall design: To characterize the overall landscape of epithelial and tumor cell gene expression, we analyzed scRNA-seq data from nine control mucosa (CM) samples, nine patient mucosa (PM) samples and 16 patient tumor mucosa (PTM) samples.