Specific spliceosomic landscapes reveal a possible link between RNA processing and panNETs behaviour

#4206

Introduction: Pancreatic Neuroendocrine Tumors (PanNETs) are characterized by a low number of mutations. Despite genomics, transcriptomics and epigenomics studies have helped to understand the molecular features of PanNETs, there is still a vast unexplored ground for better comprehension of this disease. In this context, we have previously documented that RNA splicing is dysregulated in these tumors, which unveils new avenues to discover potential biomarkers and therapeutic targets. However, clinical and molecular implications of this dysregulation are still very poorly understood.

Aim(s): To describe the spliceosomic landscape of PanNETs, and analyze its putative associations to their physiopathology, heterogeneity and clinical behaviour.

Materials and methods: We explored two different cohorts of 175 and 66 PanNETs samples, including RNA-seq, mutational and clinicopathological data. The expression levels of splicing variants/events and splicing machinery components were quantified using rMATS and DESeq-2, respectively. We used dimensionality reduction techniques to classify samples according to their spliceosomic landscape and later explored their relationship with pathological and mutational data.

Conference:

Presenting Author: Pedraza-Arévalo S

Authors: Pedraza-Arévalo S, Blázquez-Encinas R, García-Vioque V, Moreno-Montilla M, Ruiz-Palacios D,

Keywords: pancreatic neuroendocrine tumor, splicing, RNA, grade, metastasis,