Abstract Library

#4650 Whole exome sequencing in pulmonary neuroendocrine neoplasms: Findings from a pilot investigation

Introduction: The molecular landscape of lung neuroendocrine tumours (NETs) is still poorly characterised. Lung NETs main prognostic factors currently include stage, histotype, grade, location, and demographic parameters, but molecular biomarkers are still not available, limiting the possibility for personalised therapeutic strategies.

Conference:

Presenting Author:

Authors: Martiradonna M, Pecora G, Mancini C, de Vitis C, Telese S,

Keywords: carcinoid, PBMC, NGS, Whole exome sequencing, WES, FFPE, Lung NET, molecular landscape,

#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,

#3811 Multi-omic factor analysis (MOFA) of well-differentiated neuroendocrine tumors (NETs) from different tumor sites

Introduction: NENs are a heterogeneous family of tumors of wide anatomical distribution that share common clinical and biological traits. Although some studies have characterized the molecular landscape of specific primary locations, there is no cross-site molecular classification of NENs.

Conference:

Presenting Author: Carretero C

Authors: Carretero C, Antón-Pascual B, Lens-Pardo A, Benavent M, Gómez-Izquierdo L,

Keywords: NET, MOFA, multi-omics, clinical features, survival,

#3430 Comprehensive transcriptomic and methylomic analysis of NENs from multiple origins show subgroups of patients with clinical relevance

Introduction: Neuroendocrine neoplasms (NENs) are a heterogeneous group of tumors with a wide anatomical distribution that share common neuro and endocrine properties. Although some studies have assessed the NET molecular landscape of certain primary sites, none of them have evaluated cross-sites molecular studies.

Conference:

Presenting Author: Carretero C

Authors: Carretero C, Soldevilla B, Gil B, La Salvia A, Lens-Pardo A,

Keywords: neuroendocrine tumor, multiomics, subtypes,

#3250 High TMB and MSI-high as independent predictors of survival in NENs

Introduction: To date, there are no validated molecular biomarkers for personalized therapy in NENs. Tumor genome sequencing may help unravel NEN molecular landscape and identify novel targets for an individualized approach.

Conference: 18th Annual ENETS Concerence (2021)

Presenting Author:

Authors: La Salvia A, Barroso G, Espinosa Olarte P, Anton Pascual B, Modrego Sanchez A,

Keywords: molecular profiling, neuroendocrine neoplasm, TMB, microsatellite instability (MSI)/mismatch repair deficiency (MMRd) status, prognosis,