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...

Neuroendocrine tumors (NETs) and carcinomas (NECs) are a heterogeneous group of malignances whose incidence is increasing worldwide. First-line approach is represented by surgery, whereas an effective pharmacological treatment for disseminated and relapsing disease is still needed. Somatostatin (SS) receptors (SSTs) constitute the main suitable pharmacological targets for NETs therapy with SS analogs (SSAs). Nevertheless, a large proportion of NETs and most NECs, are unrespons...

Neuroendocrine neoplasms (NENs) are a heterogeneous tumour classification including indolent neuroendocrine tumours (NETs), aggressive neuroendocrine carcinomas (NECs). NECs and small cell lung cancer (SCLCs) are poorly differentiated tumours and life expectancy following metastatic diagnosis is less than 1 year. Currently, there are known variants in germline DNA that associate with bronchial and pancreatic NENs, but not intestinal. We conducted an exome-wide association stud...

Pheochromocytomas and paragangliomas (PPGL) are commonly benign catecholamine-producing neuroendocrine tumors (NETs); however, up to 25 % of patients develop distant metastases or aggressive behavior. The current classification of PPGL comprises pseudohypoxia-profile, MAPK-pathway alteration, and Wnt-pathway dysregulation clusters according to their genomic characterization. However, to date, there are no biomarkers to help stratify patients based on their prognosis. Alternati...

Lung neuroendocrine neoplasms (LungNENs) are highly heterogeneous tumors, which are classified by the WHO according to their histological grade into low grade: Typical Carcinoids (TC) and intermediate grade Atypical Carcinoids (AC), and high-grade: Large Cell Neuroendocrine Carcinoma (LCNEC) and Small Cell Lung Cancer (SCLC). Recently, a number of studies have tried to untangle the molecular features that define each subtype by applying different approaches, including genomic,...

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...

Pheochromocytomas and paragangliomas (PPGL) are infrequent neuroendocrine neoplasms, which develop metastases or aggressive behaviour in 25 % patients. They can be classified into three clusters according to their molecular features; nevertheless, these differences may not stratify patients according to their prognosis. The dysregulation of the splicing process has emerged as a novel feature shared by most cancers, which is associated with an aggressive phenotype in several tu...