Case study of a neuroendocrine tumor of uncertain origin: single-cell transcriptomics unravels potential primary source
In this study, we present a clinical case of a patient with a retroperitoneal non-functional non-organ-confined neuroendocrine tumor, as determined by routine testing. The histogenesis of the tumor was assessed based on bulk and single-cell RNA sequencing (bulk RNA-seq and scRNA-seq) data, as standard diagnostic procedures proved ineffective. The use of publicly accessible bulk and single-cell RNA-seq data from pancreatic and small intestinal NETs allowed for the development and validation of gene signatures tailored to each specific localization of origin. Additionally, it enabled the prediction of the primary origin of the previously described NET,  indicating that ectopic pancreatic tissue is the most probable source. Overall design: Neuroendocrine tumor sample from one patient was analyzed using single-cell RNA-seq