Familial endocrine tumours: pheochromocytomas and extra-adrenal paragangliomas – an update

Pheochromocytomas (PCC) and paragangliomas (PGL) are tumours occurring in the adrenal medulla and in extra-adrenal paraganglia, respectively. They have long been associated with familial occurrence and several syndromes had been described in which PCC formed an important component, including multiple endocrine neoplasia type 2, von Hippel-Lindau disease and neurofibromatosis type 1. Since the beginning of this millennium, both by the elucidation of specific genes, such as the various succinate dehydrogenase genes, as well as by generic molecular biology approaches, such as The Cancer Genome Atlas (TCGA) initiative, it was shown that the frequency of germline mutations in candidate genes for PCC and PGL has increased to 35 –40%.

Source: Diagnostic Histopathology - June 26, 2017 Category: Pathology Authors: Esther Korpershoek, Francien H. van Nederveen, Paul Komminoth, Ronald R. de Krijger Tags: Endocrine pathology Source Type: research