Abstract Library

#4209 Transcriptomic and spliceosomic landscapes of pancreatic neuroendocrine tumors generated through Oxford Nanopore Technology sequencing

Introduction: Pancreatic Neuroendocrine tumors (PanNETs) are rare neoplasms with heterogenous nature, still poorly understood. Their low mutational burden has prompted to explore other molecular aspects, from epigenomics to transcriptomics. Increasing evidence indicates that transcriptomic changes, often derived from alterations in alternative splicing, can generate isoforms with oncogenic potential. In this context, long-read Oxford Nanopore Technology (ONT) has emerged as an ideal suited sequencing tool to deeply study transcriptomics and splicing variants.

Conference:

Presenting Author: Moreno Montilla M

Authors: Moreno Montilla M, Jones G, Jeffries A, Blazquez Encinas Rey R, Bamford R,

Keywords: Pancreatic Neuroendocrine Tumor, Oxford Nanopore Technology Sequencing, Transcriptomics, Splicing, Fusion Genes,

#3493 Molecular characterization of the splicing machinery in pheochromocytomas and paragangliomas unveils a marked dysregulation with instructive potential

Introduction: Pheochromocytomas and paragangliomas(PPGL) are rare neuroendocrine neoplasms. Up to 25% will develop distant metastases or aggressive behaviour, but there is a lack of accurate risk markers able to stratify patients according to their potential outcome. Genomic characterization of PPGLs has identified 3 clusters: Pseudohypoxic-profile, MAPK-pathway alteration, and Wnt-pathway dysregulation. Alternative splicing dysregulation is emerging as a novel hallmark of cancer, due to its link to oncogenesis and aggressiveness in different neoplasms, including NENs.

Conference:

Presenting Author:

Authors: Moreno-Montilla M, Encinas Rey R, Martínez Montes A, García-Vioque V, Alors-Pérez E,

Keywords: pheochromocytoma, paraganglioma, metastasis, splicing dysregulation, splicing machinery,