Abstract Library

#4559 Exploring the interplay between RNA methylation and splicing dysregulation in neuroendocrine tumours

Introduction: Post-transcriptional modifications play crucial roles in regulating gene expression and cellular function. While recent findings indicate that alternative splicing dysregulation plays a key role in tumorigenic properties of neuroendocrine tumours (NETs), the role of other RNA processing mechanisms, such as N6-methyladenosine (m6A) — being the most common RNA methylation — remains largely unexplored in NETs.

Conference:

Presenting Author:

Authors: Ruiz-Palacios D, Gutiérrez Camacho L, García Vioque V, Moreno Montilla M, Blázquez-Encinas R,

Keywords: RNA methylation, splicing, neuroendocrine tumour, lung NET, pan NET,

#3859 Molecular landscape of splicing dysregulation in pheochromocytomas and paragangliomas

Introduction: Pheochromocytomas and paragangliomas (PPGL) are commonly benign neuroendocrine tumors (NETs). However, up to 25 % of patients develop metastases or aggressive behaviour. Genomic characterization current classifies PPGL into different genetic clusters, yet there are no biomarkers which could stratify patients based on their prognosis. The dysregulation of the splicing process has emerged as a novel feature, common in most cancers, and linked to a more aggressive phenotype in several tumors, including NETs, but this process has not been examined in detail in PPGL.

Conference:

Presenting Author:

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

Keywords: pheochromocytoma, paraganglioma, splicing dysregulation, splicing machinery, pladienolide B,

#3521 Molecular, histopathological, and functional characterization of the dysregulation of the splicing machinery in lung carcinoids

Introduction: Alteration of alternative splicing is an emerging hallmark of cancer, which has been linked to aggressiveness features in diverse types of tumors, including neuroendocrine neoplasms.

Conference:

Presenting Author: García Vioque V

Authors: García-Vioque V, Blázquez-Encinas R, Caro-Cuenca T, Moreno-Montilla M, Alors-Pérez E,

Keywords: lung carcinoid, splicing dysregulation, splicing events, splicing machinery,

#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,

#3062 The Splicing Factor CELF4 Is Dysregulated in Neuroendocrine Tumors, Where It Can Enhance Aggressiveness Features

Introduction: There is increasing evidence that alterations in alternative splicing are linked to key tumor features in different cancers. Besides mutations, dysregulation of the splicing machinery would represent the main underlying cause for these alterations. Indeed, splicing dysregulation is emerging as a novel, transversal cancer hallmark, due to its association with multiple dysfunctions in tumor cells.

Conference: 17th Annual ENETSConcerence (2020)

Presenting Author: Alors-Pérez E

Authors: Alors-Pérez E, Pedraza-Arévalo S, Vázquez-Borrego M, Blázquez-Encinas R, Herrera-Martínez A,

Keywords: PanNET, CELF4, splicing, aggressiveness, pituitary tumors,