Abstract Library

#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,

#3509 Comparative biocomputational analysis of the splicing landscape across lung neuroendocrine neoplasms unveils a new actionable molecular layer

Introduction: Dysregulation of alternative splicing has emerged as a new, overarching hallmark of cancer, which may arise from mutations and/or altered expression of specific components of the splicing machinery. To date, no studies have been reported comparing the spliceosomic landscape, i.e. the status of the splicing machinery and alternative splicing patterns, among the different histological types of pulmonary neuroendocrine neoplasms (LungNENs), namely typical and atypical pulmonary carcinoids, Large Cell Neuroendocrine Carcinoma (LCNEC) and Small Cell Lung Cancer (SCLC).

Conference:

Presenting Author: Blázquez-Encinas R

Authors: Blázquez-Encinas R, García-Vioque V, Sexton-Oates A, Moreno-Montilla M, Alors-Pérez E,

Keywords: Neuroendocrine, NEN, Lung, Splicing,

#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,

#3261 Splicing machinery dysregulation in low grade pulmonary carcinoids

Introduction: Dysregulation of alternative splicing has emerged as a hallmark for cancer. Recently, our group has shown that splicing machinery expression profile is altered in several cancers, including neuroendocrine tumors. In this study, we explored how this machinery is dysregulated in pulmonary carcinoids.

Conference: 18th Annual ENETS Concerence (2021)

Presenting Author: Blázquez-Encinas R

Authors: Blázquez-Encinas R, Caro M, García-Vioque V, Pedraza-Arévalo S, Alors-Pérez E,

Keywords: neuroendocrine, carcinoid, lung, splicing,