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Endocrine Abstracts (2012) 29 S68.1

ICEECE2012 Symposia European network for the study of adrenal tumours (ENSAT) (3 abstracts)

Genetics for pheochromocytoma and paraganglioma in 2012

M. Robledo


Spanish National Cancer Center, Madrid, Spain.


Pheochromocytomas (PCCs) and paragangliomas (PGLs) are rare tumours of neural crest origin, previously referred to as ‘the 10 percent’ tumor due in part to the frequency of inherited forms. During the last decade the scientific community has been witness to a fast increase of knowledge of the genetics of these tumours. In this regards, the use of different strategies and new platforms has allowed to identify up to date thirteen PCC/PGLs susceptibility genes. Currently the proportion of familial PCC/PGLs may exceed 40%, which renders PCC/PGL as one of the most inherited tumor entities.

There is no doubt about the importance of detecting a mutation in any of the known genes related to the disease, not only for the affected patient but also for the relatives. Keeping in mind the genetic heterogeneity we face, it is critical the consideration of clinical, biochemical and immunohistochemical features to set up efficient algorithms able to guide a rational genetic screening in each patient.

It is worth highlighting that at least 10% of patients, negative for the genetic study of the so far disease-related genes, are actually good candidates to be carriers of mutations in other susceptibility loci not yet identified.

Despite the powerful tools currently available, the identification of new susceptibility genes is not a straightforward issue. Only after a thorough patient’s selection, either due to the phenotypic features or other OMIC data, the discover of new genes will be feasible. The participation of International Consortium is mandatory to this end.

Declaration of interest: The author declares that there is no conflict of interest that could be perceived as prejudicing the impartiality of the research project.

Funding: This research did not receive any specific grant from any funding agency in the public, commercial or not-for-profit sector.

Volume 29

15th International & 14th European Congress of Endocrinology

European Society of Endocrinology 

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