ea0077lb39 | Late Breaking | SFEBES2021
Salsbury Grace
, Read Jordan E
, Morales Valle
, Hall Charlotte L
, Lim Eugenie S
, Akker Scott A
, Bianchi Katiuscia
, Chapple Paul
Loss of function of succinate dehydrogenase (SDH), caused by mutations in each of the 4 subunits SDHA/B/C and D is associated with development of phaeochromocytomas and paragangliomas (PPGLs). The mutations lead to loss of enzymatic activity and subsequent accumulation of the oncometabolite succinate, a driver of tumourigenesis. It is well established but poorly understood why mutations in SDHB are associated with more aggressi...