Peter Istvan Turai and Peter Igaz
Journal of the Endocrine Society, Volume 8, Issue 6, June 2024, bvae070
https://doi.org/10.1210/jendso/bvae070
Pheochromocytoma/paraganglioma (PPGL) is unique for having the highest rate of heritability among human tumors. A total of 40% to 50% of PPGL are caused by germline pathogenic variants (PV) in a set of approximately susceptibility 20 genes. Two major pathomechanisms were established (i.e., the pseudohypoxia pathway [cluster 1 including clusters 1A and 1B] and kinase signaling [mTOR/RAS, cluster 2]), and recently a third pathway involving Wnt signaling has also been identified. In their recent manuscript, Richter and Bechmann from the University of Dresden (Germany) present their findings in a retrospective analysis, where they compared the distribution of PV and reported clinical features of PPGL in European and Asian populations and related to sex. Several molecular differences have been described between males and females and among different populations in various tumors, and this study sheds light on the relevance of these in chromaffin tumors as well. These particularly intriguing perspectives further highlight the growing interest in personalized medicine.
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