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bioRxiv · 10.1101/2025.02.10.637596

A single-cell transcriptomic comparison between small intestinal neuroendocrine tumors and their progenitor

Axling, F.·Barazeghi, E.·Hellman, P.·Norlen, O.·Backman, S.·Stalberg, P.
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Abstract

Several studies have attempted to find the initiating drivers of small intestinal neuroendocrine tumors (SI-NET) development and the molecular mechanisms driving progression and metastatic spread. For gene expression studies using bulk microarrays and RNA sequencing, researchers commonly use normal intestinal mucosa as a control. The intestine is made up of several different cell types, and using bulk RNA-seq may generate findings that reflect factors other than the tumor transformation. This could potentially contribute to the lack of discoverable treatments and prevention strategies for SI-NETs. We performed scRNA-seq on tissue from two patients that had tumor resection surgery and separated the EC cells from the normal intestinal mucosa and used specific markers to compare them against SI-NET tumors cells. We pinpointed new genes associated with chr18 haploinsufficiency but also others with loss or gain of expression that have not previously been associated with SI-NETs, and which could be potential targets for further functional genomic studies.

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Axling, F., Barazeghi, E., Hellman, P., Norlen, O., Backman, S., Stalberg, P.. 2025-02-15. A single-cell transcriptomic comparison between small intestinal neuroendocrine tumors and their progenitor. https://doi.org/10.1101/2025.02.10.637596

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