Endocrine Abstracts

The occurrence of a pheochromocytoma (Pheo) or a paraganglioma (PGL) during pregnancy is extremely rare with a frequency of 0.002% of all pregnancies.Because of the rarity of this association and the extremely variable clinical picture of Pheo/PGL, the diagnosis constitutes a real challenge for the clinicians. In fact, the differential diagnosis between Pheo/PGL and the more frequent gestational hypertension or (pre)eclampsia is very difficult. Paroxysma...

Pheochromocytoma (Pheo) is a chromaffin tumor of the adrenal gland. When extra-adrenal, the tumor is called paraganglioma (PGL). At present, the only objective criterion for malignancy is the presence of metastases (i.e. spreading of the tumor in bones, liver, lungs or lymph-nodes where chromaffin tissue is normally absent). Extensive invasion of adjacent tissues can be considered only an indicator of malignant potential as well as high cellularity, necrosis, vascular/capsular...

Definition: High blood pressure due to excessive activation of mineralocorticoid receptors (MR).Consequences of an excess in MR activation are an excess in sodium and water retention, an expansion of plasma volume and a depletion of exchangeable body potassium.Laboratory hallmarks of mineralocorticoid hypertension are a suppressed renin secretion and a tendency to develop hypokalemia.Causes: The most frequent...

Pheochromocytomas (PHEOs) and paragangliomas (PGLs) are rare neuroendocrine tumors. About 30-40% of these tumors are due to e germ-line mutation in one of the 13 main susceptibility genes which include: the tumor-suppressor gene VHL; the proto-oncogene RET; the tumor-suppressor gene Nf1; the genes encoding the four subunits of the succinate dehydrogenase (SDH); the SDHAF2/SDH5 gene that is responsible for the flavination of the SDHA subunit;...

Pheochromocytoma (PHEO)/paraganglioma (PGL) are neural crest-derived tumors, and about 25% of the apparently sporadic cases are due to a germ line mutation in one of the susceptibility genes. The group of these genes includes the genes encoding three of the four subunits of the SDH, and the recently discovered gene, SDHAF2/SDH5, responsible for the flavination of the SDHA subunit.Although several hypotheses have been proposed, the molecular events by whi...

Adrenocortical carcinoma (ACC) is a rare, heterogeneous malignancy with aggressive behavior and poor prognosis, particularly when metastatic at diagnosis. To date, radical surgery, possibly associated to mitotane adjuvant therapy, is considered the best option for ACC treatment. However, the mean 5-year survival rate diminishes dramatically in metastatic ACC and chemo-resistance often develops. Thus, more specific and effective drugs for ACC treatment are urgently required. Th...

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...

Adrenocortical carcinoma (ACC) is a rare, heterogeneous malignancy with a poor prognosis, particularly when metastatic at diagnosis. To date, radical surgery, possibly associated to mitotane adjuvant therapy, is the only available treatment. However, the mean 5-year survival rate drops under 10% in metastatic ACC and chemo-resistance often develops. Thus, more specific and effective drugs for ACC treatment are urgently required. The antidiabetic drug metformin, used in type 2 ...

Introduction: Occult neuroendocrine tumors are still a difficult diagnostic/therapeutic challenge.Case report: In November 2007, a 29-years-old Caucasian woman was admitted to our in-patients clinic with a 2-month history of rapidly progressing signs and symptoms of chronic hypercortisolism, including a bipolar disorder in psychosis. On admission the patient presented with hypokalemia (3.2 mEq/l), high levels of plasma (3164 nmol/l) and urinary free (26 ...

This study examined whether different forms of hereditary pheochromocytoma are characterized by different catecholamine phenotypes and whether this is reflected by differences in plasma concentrations of normetanephrine, metanephrine and methoxytyramine – the respective O-methylated metabolites of norepinephrine, epinephrine and dopamine. Subjects included 154 patients with hereditary pheochromocytoma, 72 with tumors associated with von Hippel–Lindau (VHL) syndrome, ...