Endocrine Abstracts

Context: Paragangliomas and pheochromocytomas (PPGL) are rare neuroendocrine tumors, characterized by a strong genetic component. Indeed, up to 40% of patients carry a germline mutation in a PPGL susceptibility gene. In accordance with the international recommendations, genotyping of PPGL susceptibility genes is therefore proposed to all patients with PPGL, but it has actually never been shown whether the identification of a germline mutation in one PPGL susceptibility gene ch...

Pheochromocytoma/paraganglioma (Pheo/PGL) are rare neuroendocrine tumors generally benign. About 30–40% of Pheo/PGL are due to germ-line mutations in one of the susceptibility genes, including those encoding the succinate dehydrogenase subunits A-D (SDHA-D). Up to 80% of patients affected by SDHB mutated Pheo/PGL develop metastatic disease with no successful cure at present. In this study, we evaluated the different effect of tumor microenvironment on tu...

The intrinsic heterogeneity of endocrine-related cancers (ERCs) hampers the identification and development of global and effective therapeutic treatments for these pathologies. However, the dysregulation of the splicing process has been postulated as a new common hallmark shared by most cancer types, since it is associated with the appearance of splicing variants with oncogenic potential (e.g. CD44v6, BCL-Xs, AR-v7, SST5TMD4, In1-ghrelin...

There is increasing evidence that alterations in alternative splicing can be linked to key tumor features in cancer. Dysregulations in the splicing machinery constitute the underlying cause in many of these alterations and, consequently, splicing and its control are emerging as a novel and transversal cancer hallmark, due to its association with different dysfunctions of tumor cells. In line with this, we discovered the existence of aberrantly spliced variants of somatostatin ...

Background: Patients with adrenal insufficiency suffer from increased morbidity and mortality. Quantitative evidence on the health-care burden of either primary (PAI) or secondary adrenal insufficiency (SAI) among hospitalized medical patients is scarce.Methods: In this observational cohort study, we analysed nationwide acute care hospitalizations from patients with PAI or SAI, respectively, between 2011 and 2015 using prospective administrative data. Pa...