Searchable abstracts of presentations at key conferences in endocrinology
Endocrine Abstracts (2022) 81 S9.1 | DOI: 10.1530/endoabs.81.S9.1

ECE2022 Symposia Genetics of adrenal endocrine tumors (3 abstracts)

Genetic bases of pheochromocytoma and paraganglioma

Mercedes Robledo


Hereditary Endocrine Cancer Group, Spanish National Cancer Research Centre (CNIO), Madrid, Spain; 2Rare Diseases Networking Biomedical Research Centre (CIBERER), Madrid, Spain


Pheochromocytoma and paraganglioma (PPGL) are rare tumours, whose genetic profile has gained complexity over the last two decades. The list of genes involved in the development of this disease has been steadily growing, and there are currently more than 20 driver genes capable of explaining either the hereditary or sporadic nature of the disease. Although genetic diagnosis is achieved in about 75-80% of cases, the genetic aetiology remains to be explained not only in patients with apparently sporadic PPGL, but also in patients with a family history or with multiple tumours, and who therefore meet the criteria to be considered as candidates for carrying mutations in as yet undiscovered genes. Taken together, the mutations in the known PPGL genes deregulate three distinct signalling pathways, which may be the starting point for personalised treatment of these patients. One of the most relevant features of PPGLs is that they show homogeneous genomic profiles according to the specific gene that is mutated in each case. This homegeneity is what is making it possible to identify new characteristics of PPGLs, including differential aspects of the tumour microenvironment, again dependent on the genetics of the tumour.

Volume 81

European Congress of Endocrinology 2022

Milan, Italy
21 May 2022 - 24 May 2022

European Society of Endocrinology 

Browse other volumes

Article tools

My recent searches

No recent searches.

My recently viewed abstracts