ea0081oc14.1 | Oral Communications 14: Late Breaking | ECE2022
Lopez Antoine-Guy
, Duparc Celine
, Renouf Sylvie
, Machevin Elise
, Guillou Vincent Le
, Sabourin Jean-Christophe
, Defortescu Guillaume
, Buffet Alexandre
, Gimenez-Roqueplo Anne-Paule
, Dubessy Christophe
, Louiset Estelle
, Herve Lefebvre
Pheochromocytomas and paragangliomas (PPGL) are catecholamine-producing neuroendocrine tumors that display the highest heritability rate among all human tumors. Genomic analyses revealed the existence of 2 main clusters of PPGL, i.e. cluster 1 containing SDHx- and VHL-mutated tumors which do not produce epinephrine, and cluster 2 including epinephrine-secreting PPGL related to RET, NF1, TMEM127 and MAX mutations. Early diagnosis and treatment of PPGL is crucial to prevent adre...