ea0077p222 | Neuroendocrinology and Pituitary | SFEBES2021
, Carroll Paul
, Izatt Louise
, Quinn Mark
, Velusamy Anand
Pathogenic variants in the SDHx genes are responsible for ~20% of familial Phaeochromocytoma/Paraganglioma (PPGL) tumours. Metastatic disease is lower in SDHD in comparison to SDHA, B and C mutations. Although the genotype-phenotype relationship is not well established it is considered that truncating SDHD pathogenic variants have a higher risk of causing disease in comparison to missense variants. We present two cases of metastatic paraganglioma in patients with heterozygous ...