Searchable abstracts of presentations at key conferences in endocrinology
Endocrine Abstracts (2015) 37 S12.1 | DOI: 10.1530/endoabs.37.S12.1

1Spanish National Cancer Research Center, Madrid, Spain; 2ISCIII Center for Biomedical Research on Rare Diseases (CIBERER), Madrid, Spain.


Pheochromocytomas (PCC) and paragangliomas (PGL) are rare neuroendocrine tumours, located in the adrenal medulla (PCC) and in the intra-abdominal, thoracic or head and neck paraganglia (PGL). They have the highest heritability of all human neoplasms being a good example of diseases with underlying genetic heterogeneity. In this regard, at least 40% of PCC/PGL patients carry a germline mutation in one of the 16 genes described so far as related to the disease. In addition to the complexity of the genetics of PCC/PGL, we need to consider the role of somatic mutations, which to date, have been identified at least in 20–30% of tumors. The latter have been observed to occur not only in the same genes involved in heritable susceptibility, but also in new ones, which have thus recently emerged as key players in the sporadic presentation of these diseases. Despite of the increasing proportion of patients already explained by germline or somatic genetic defects, there are still patients with clinical indicators of hereditary disease (i.e. familial antecedents, multiple tumors and/or young age) without a molecular diagnosis, which are being actively investigated.

Genomic characterization has provided a robust way not only to identify molecular events associated with specific genotypes, but also diagnostic and prognostic markers. In fact, the new approaches have been responsible for the explosion of knowledge the scientific community is facing. In this regards, most of the latest PCC/PGL genes identified have been discovered after an integrative approach involving transcriptome, mirnome or methylome profiling and next generation sequencing.

The talk will review clinical features related to each of the PCC/PGL genes known so far, as well as new findings that point to the Krebs cycle genes as strong candidates to explain additional pheochromocytoma or paraganglioma cases.

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