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...