Endocrine Abstracts

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...

Lung carcinoids are slow-proliferating neuroendocrine neoplasms commonly showing low mutational burden but a high heterogeneity and difficult clinical management. Despite valuable advances in their molecular characterization, some aspects remain still unknown. Recent studies have shown that alternative splicing is severely dysregulated in lung carcinoids, where it could promote tumoral features. In contrast, the role of some molecular systems closely related to splicing and ot...

Lung neuroendocrine neoplasms (LungNENs) comprise a diverse group of rare tumors with a commonly difficult and late diagnosis, which often require complex management and treatment. The most frequently mutated genes in LungNENs have recently been identified, including known components of the chromatin-regulating pathways such as MEN1, PSIP1 and ARID1A, which are the subject of ongoing detailed studies. In contrast, other key regulatory mechanisms, par...

Pheochromocytomas and paragangliomas (PPGLs) are rare neuroendocrine neoplasms (NENs) that arise in the adrenal medulla and paraganglia, respectively. As occurs in the rest of NENs, PPGLs commonly present a high density of somatostatin receptors (SSTs) on their membrane. However, unlike in most NENs, somatostatin analogues (SSAs) do not represent a suitable therapeutic target in PPGLs, and the mechanisms underlying this mismatch are still unclear. In this study, we aim to iden...

Dopamine receptor type 2 (DRD2) represents the main target for pharmacological therapy with dopamine agonists (DAs) in PRL-secreting neuroendocrine pituitary tumors (PRL-PitNET), even if about 10% of patients is resistant. A single paper recently described a somatic mutation in the gene encoding splicing factor 3B subunit 1 (SF3B1) in about 20% of patients with PRL-PitNET, that was associated with PRL hypersecretion, increased cell proliferation and invasion and reduced progre...