hrp0098p1-73 | Multisystem Endocrinology | ESPE2024

A young patient with paraganglioma due to a novel SDHB gene pathogenic variant.

Lymniati Christina , Sertedaki Amalia , Kyriakopoulos Georgios , Kanaka-Gantenbein Christina , Tsentidis Charalampos

Introduction: Paragangliomas are rare neuroendocrine neoplasms, that derive from the chromaffin cells of the neural crest. They originate from the extra-adrenal paraganglia and are divided into sympathetic and parasympathetic. They are classified into three different molecular clusters, depending on the underlying gene mutations, in any of at least 20 identified genes: cluster I Pseudo-hypoxia, cluster II Kinase signaling, cluster III Wnt signaling. Half of th...