Unravelling the RNA landscape of small intestine neuroendocrine neoplasms applying transcriptomic and spliceosomic perspectives

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Introduction: The study of small intestine neuroendocrine neoplasms (siNENs) transcriptomics represents a challenge due to their rarity, tissue availability, and heterogeneity. Recent studies identified different molecular subtypes, but there are still gaps in the molecular mechanisms driving siNEN progression.

Aim(s): To evaluate the spliceosomic landscape - splicing factors and variants - in a set of 44 siNENs to identify putative biomarkers related to clinical features.

Materials and methods: We analysed a set of 44 siNEN paraffin-embedded samples using RNAseq. Gene expression and splicing variants were analysed using Cufflinks tools and SUPPA2, respectively. Clinical data were collected, including location, treatment, chromogranin A secretion, Ki-67 index, metastasis, overall survival, among others. Poor outcome was defined as death within the first 5 years from diagnosis.

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Authors: Ibáñez-Costa A, Pedraza-Arevalo S, Moreno-Montilla M, Hernando J, García A,

Keywords: small intestine neuroendocrine neoplasm, splicing, transcriptomics, biomarker,