Clinical and molecular markers guide the genetics of pheochromocytoma and paraganglioma.

Over the past two decades, research into the genetic susceptibility behind pheochromocytoma and paraganglioma (PPGL) has surged, ranking them among the most heritable tumors. Massive sequencing combined with careful patient selection has so far identified more than twenty susceptibility genes, leading to an over-detection of variants of unknown significance (VUS) that require precise molecular markers to determine their pathogenic role. Moreover, some PPGL patients remain undiagnosed, possibly due to mutations in regulatory regions of already known genes or mutations in undiscovered genes. Accurate classification of VUS and identification of new genes require well-defined clinical and molecular markers that allow effective genetic diagnosis of most PPGLs.
Competing Interests: Declaration of Competing Interest The authors declare the following financial interests/personal relationships which may be considered as potential competing interests: Alberto Cascon reports financial support was provided by Instituto de Salud Carlos III (ISCIII, project PI22/01490). Mercedes Robledo reports financial support was provided by Paradifference Foundation. Mercedes Robledo reports financial support was provided by Pheipas Association. Mercedes Robledo reports financial support was provided by Instituto de Salud Carlos III (ISCIII, project PI20/01169). If there are other authors, they declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper.
(Copyright © 2024. Published by Elsevier B.V.)