Endocrine Abstracts

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...

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...

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...

Paragangliomas (PGLs) are rare neuroendocrine tumors. About 30–40% of these tumors are mutated in different susceptibility genes, including those encoding the different subunits of the succinate dehydrogenase, a complex involved both in the tricarboxylic acid cycle and in the oxygen transport chain. The aim of this project was to investigate whether SDHB mutations may account for alterations in cell metabolism and functions. Since PGL cell lines are not available, we used...

Purpose: To genotype patients with head–neck paragangliomas (HNPGL) and evaluate the percentage and types of germ-line mutations in patients classified according to family history (FH) and clinical presentation.Design: In total, 101 consecutive patients with HNPGL were examined for mutations in SDHB, SDHC, SDHD. SDHAF2 and VHL genes by PCR/sequencing.According to a careful FH, clinical, laboratory (including meta...