Endocrine Abstracts

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Paragangliomas and pheochromocytomas (PPGL) are neuroendocrine tumors with a very strong genetic component. A germline mutation in one of the different susceptibility genes identified so far explains about 40% of all cases. Genetic testing is recommended in every affected patient and next-generation sequencing (NGS) is the ideal technology to screen the high number of PPGL susceptibility genes (1). The interpretation of genetic variants identified by NGS can be guided by the c...

The genetic landscape of neuroendocrine tumors (NETs) is being rapidly uncovered. It has long been known that, like other endocrine tumors, NETs might occur in the context of familial predisposition syndromes, involving genes like MEN1, VHL, TSC1/TSC2, NF1 and CDKN1B. Recently, several seminal papers have described the main molecular abnormalities underlying sporadic or apparently sporadic NETs. The results confirm that: (a) well di...