Endocrine Abstracts

Pheochromocytomas and paragangliomas (PPGL) are rare neuroendocrine tumors derived from chromaffin cells of the adrenal medulla and paraganglia of the autonomic nervous system, respectively. Despite a common origin, these tumors are quite heterogeneous in terms of driver mutations, copy number alterations and activated downstream-signaling pathways. Genome wide expression analysis has identified at least three main tumor clusters: a pseudo-hypoxic cluster, one with activation ...

Introduction: Pheochromocytoma associated with pregnancy carries a great risk for adverse fetal and maternal outcome, especially when the diagnosis is missed. Symptoms can present in a wide variety regarding intensity and duration, making it difficult for the treating midwife or obstetrician to draw correct conclusions.Clinical Case: We present a case of a 29 years old patient whose third pregnancy was complicated by short, but frequent and intense spell...

Solid tumours are very complex tissues comprising not only cancer cells, but also non-malignant stromal cells such as endothelial cells, fibroblasts, immune cells and extracellular matrix, forming the so called tumour microenvironment. In the last few years, it has become more and more evident the pivotal role of the tumour microenvironment in modulating cancer progression and metastasis. Tumour microenvironment has thus become a potential therapeutic target. To obtain an expe...

Pheochromocytomas (PHEOs) and paragangliomas (PGLs) are rare neuroendocrine tumors. About 30-40% of Pheo/PGLs are due to a germ-line mutation in one of the 13 main susceptibility genes which include the genes encoding the four subunits of the succinate dehydrogenase (SDH - mitochondrial complex II). In PHEO/PGL due to SDHB mutations up to 80% of affected patients develop metastatic disease and no successful cure is at present available. To obtain an experimental model resembli...

Pheochromocytomas (PHEOs) and paragangliomas (PGLs) are rare neuroendocrine tumors. About 30–40% of Pheo/PGLs are due to a germ-line mutation in one of the 13 main susceptibility genes which include the genes encoding the four subunits of the succinate dehydrogenase (SDH - mitochondrial complex II). In PHEO/PGL due to SDHB mutations up to 80% of affected patients develop metastatic disease and no successful cure is at present available. Tumor microenvironment plays a pivo...

Paragangliomas are rare neuroendocrine tumors derived from neural crest cells: if localized in the adrenal medulla they are called Pheocromocytomas (Pheo).The 30–40% of Pheo are mutated in one of the susceptibility genes among which there are genes encoding for the four subunits of the succinate dehydrogenase (SDH). Germ line mutations of SDHB are metastatic in about 80% of the cases. Surgery is the current therapy, but in presence of metastasis there is no effective trea...