Searchable abstracts of presentations at key conferences in endocrinology

ea0040l6 | The genomic landscape of pancreatic neuroendocrine tumors | ESEBEC2016

The genomic landscape of pancreatic neuroendocrine tumors

Scarpa Aldo

Pancreatic neuroendocrine tumours (PanNETs) are clinically challenging diseases as they display variable outcomes. We performed genome sequencing on 100 sporadic, primary pancreatic neuroendocrine tumours (PanNETs) and defined the underlying mutagenic mechanisms and mutations promoting this rare malignancy. Genome-wide analysis showed PanNETs to have a lower mutation burden and greater genomic stability than pancreatic exocrine cancers. The most common mutational signatures we...

ea0032s5.1 | A guide through the labyrinth of neuroendocrine tumours | ECE2013

Tumor biology and classification of NET

Scarpa Aldo

Gastroenteropancreatic neuroendocrine tumors (GEP-NETs) constitute a heterogeneous group of neoplasms. In the last few decades, due to a substantial rise in incidence and prevalence, GEP-NETs have been included among the most common tumors of the gastrointestinal tract. Diagnosis could be challenging and a significant number of patients present with metastatic or unresecable disease. The development of appropriate tools for standardized prognostic stratification and the introd...

ea0090oc6.1 | Oral Communications 6: Endocrine-related Cancer | ECE2023

RNA splicing landscape of pancreatic neuroendocrine neoplasms reveal novel clinico-molecular associations

Blazquez-Encinas Ricardo , Pedraza-Arevalo Sergio , Garcia Vioque Victor , Trinidad Moreno Montilla Maria , Lawlor Rita T , Rovite Vita , Scarpa Aldo , Ibanez Costa Alejandro , P. Castano Justo

Neuroendocrine neoplasms (NENs) are a highly heterogeneous group of tumors that arise from the diffuse neuroendocrine system and whose incidence has increased over the last years. Among them, pancreatic NENs (PanNENs) are relatively common and one of the most studied NENs. PanNENs are characterized by a low number of mutations, with some genes frequently mutated, such as MEN1, ATRX/DAXX, and mTOR signaling pathway genes. Despite genomics, transcripto...