Background: Phaeochromocytomas (PCC) and paragangliomas (PGL) are tumours derived from neural crest cells within the adrenal medulla or extra-adrenal ganglia, respectively. Over 20 known genes are implicated in at least 30% of cases. Experience with these tumours in individual centres is limited due to their rarity.
Objective: To describe the demographics, genetics, treatment and progression-free survival (PFS) in patients with PCC and PGL in two London ENETS Centres of Excellence.
Methods: Retrospective audit of 175 PCC and PGL patients diagnosed between 2000 and 2017.
Results: 73 PGL and 102 PCC were analysed (83 male, 92 female). Median age of diagnosis was 51 for PCC and 48 for PGL. Most PGL were head and neck (44%) and abdomen (42%), with other sites including pelvis (8%) and thorax (1%). Genetic analysis was performed in 46 PGL (18 normal, 1 SDHAF2, 18 SDHB, 1 SDHC, 7 SDHD, 1 VHL) and 60 PCC (38 normal, 1 SDHA, 5 SDHB, 1 SDHD, 7 RET, 3 NF1, 5 VHL).
The primary treatment modality for both PGL and PCC was surgery (76% and 95%, respectively). The other treatment modalities utilised were more varied for PGL (9% radiotherapy, 6% Peptide Receptor Radionuclide Therapy [PRRT], 5% embolization, 2% somatostatin analogue, and 2% chemotherapy) than for PCC (3% 131-I MIBG and 1% PRRT).
Progression was observed in 45% of PGL cases after treatment and 20% in PCC. In those who progressed, the median PFS in PGL was 31 months (interquartile range 41) and 15 months for PCC (interquartile range 58). Mutation carriage (PGL and PCC) and abdominal vs head and neck localisation of PGL were associated with a higher probability of progression.
Conclusions: Our database describes one of the largest series of patients with PCC and PGL in Europe. Progression is more likely in PGL vs PCC, although the interval to progression is longer for PGL.