Genetic, histologic, and molecular characterisation of pheochromocytomas and paragangliomas : an integrated approach
(2018)
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- Abstract
- Paragangliomas and pheochromocytomas (PPGL) are neuroendocrine tumours arising from extra-adrenal paraganglia tissues and adrenal glands. They often release catecholamines, which are at the origin of the main symptoms. Half of them are due to a germline mutation in one of the known genes, and somatic mutations have been identified in 30% additional PPGL in different genes. One issue is malignancy, since there is no reliable marker to predict the tumour behaviour and no established treatment. This work had two main objectives: search for somatic mutations in known genes, and for genetic markers to predict metastatic dissemination. We identified somatic mutations in half of the sequenced tumours, and a minority of tumours carrying a large number of mutations. In a second time, we observed a consistent overexpression of Contactin 4 in malignant PPGL using different techniques. We also showed that the overexpression of Contactin 4 gives a survival benefit to a cell line derived from a human PGL, hPheo1. In conclusion, comprehensive characterisation of PPGL should continue to lead to more personalised care.
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Evenepoel, L. (2018). Genetic, histologic, and molecular characterisation of pheochromocytomas and paragangliomas : an integrated approach. https://hdl.handle.net/2078.5/174878