Endocrine Abstracts

During the last two decades the Scientific Community has assisted to an exponential increase of knowledge of genetic factors related to cancer susceptibility, as well as of key molecular mechanisms involved in tumour progression. In part, this has been the result of using high-throughput platforms able to interrogate any part of the genome following a hypothesis-free strategy. Without a doubt, the success achieved in recent years has to do not only with the improvement in the efficiency of applied OMIC techniques, but also in an exquisite clinical stratification of patients of interest.

One of the best examples of the usefulness of this type of approach can be found in Pheochromocytomas (PCC) and Paragangliomas (PGL), altogether PPGL research. PPGL are rare neuroendocrine tumours with the highest heritability of all human neoplasms. These tumours hide a complex genetic scenario related so far to 31 major and minor genes. New genes are incorporated each year into this long list, and their contribution has still to be addressed. It is worthy to note that while many of these tumors are morphologically indistinguishable, their genomic profiles show a close relationship with the specific driver gene involved in the disease. Comprehensive analyses of OMIC results have lead to the identification of specific altered pathways according to the genetic status in each particular case. In fact, we are closer to recognize the weaknesses of these tumors, and we could take advantage of this feature as the start point of an individualized clinical management of patients.