Endocrine Abstracts

The von Hippel-Lindau (VHL) syndrome is an inherited multi-tumor disorder characterized by clinical heterogeneity and high penetrance. Pheochromocytoma (Pheo) is present in 10-15% of cases. It can be isolated or associated with other lesions such as hemangioblastomas, kidney cysts or cancer, and pancreatic lesions. Pheos secrete norepinephrine and are generally located in the adrenals. While performing genetic testing in patients affected by apparently sporadic pheos or PGLs, ...

Germline mutations in the RET gene cause MEN2, an inherited cancer syndrome associated with medullary thyroid carcinoma (MTC). We performed genetic analysis on DNA from whole blood of a 58 yr old female affected by a multifocal MTC. Exons 10, 11, 13, 15 and 16 of RET gene were amplified by PCR using specific primers and characterised by direct automatic sequencing. Here, we report a new RET point mutation: a heterozigous missense mutation Y606C, a G to A nucleotide substitutio...

Somatostatin (sst) receptors are expressed in many tissues and multiple subtypes are often present in the same cells. Their activation by endogenous sst as well as by sst-analogues leads to inhibition of secretion and growth in some tumor, such as the neuroedocrine ones.Pheochromocytomas (Pheos) and paragangliomas (PGLs) are neural crest-derived tumors which can be sympathetic or parasympathetic in origin and present themselves as sporadic or familial. T...

Paragangliomas (PGLs) and pheochromocytomas (PHEOs) are neural crest-derived tumors (NCD). PGLs can be localized in parasympathetic ganglia (in the head-neck region or in the anterior thorax) or in sympathetic ganglia (in the posterior thorax or in the abdomen). PHEOs can be considered PGLs arising in the adrenal gland.NCD tumors can present as sporadic or familial. The percentage of hereditary forms is supposed to be 25%. The susceptibility genes predis...

Paragangliomas (PGLs) are neuroendocrine tumors arising from the neural crest and localized from the skull base to the pelvic floor. In particular, parasympathetic PGLs arise in the head/neck region (carotid body, vagal nerve, jugulare and tympanic glomus) and more rarely in the anterior thorax, while sympathetic PGLs are localized in the posterior thorax and in the abdomen and secrete catecholamines.Localization of paragangliomas might be performed by a...