Endocrine Abstracts

SDH mutations that contribute 15%–20% of PCC/PGL syndromes predispose to the development of tumours that originate from Adrenal, Parasympathetic and extra-adrenal sympathetic-associated chromaffin tissues. We conducted a retrospective analysis to identify the prevalence of PCC/PGL and elevated biomarkers during initial screening in patients newly identified as carrying a pathogenic SDH mutation.Method: Data collection from our random cohort of patie...

Background: Pancreatic neuroendocrine tumours (pNETs) are commonly reported in patients with MEN1. The estimated incidence is reported as 40–80% of adults with MEN1 and pNETs are frequently multifocal. Guidelines recommend that CT, MRI and endoscopic ultrasound (EUS) can be used for detection and surveillance of pNETs in MEN1. MRI has been the most commonly used modality, but EUS may be more sensitive in detecting pNETs.Objective: To compare the sen...

Background: There is no consensus on the optimal timing of surgery for primary hyperparathyroidism (PHPT) in MEN1. Experienced centres recommend subtotal or total parathyroid surgery with three and a half gland surgery along with thymic removal as a favoured procedure; but long-term outcomes have rarely been reported.Objective: To investigate the indications and outcomes for surgery in patients with PHPT in MEN1Methods: Review of c...

Germline mutations account for hereditary phaeochromocytoma (PCC) and paraganglioma (PGL) syndromes. SDHB immunostaining can be used to functionally characterise SDH status on PCC and PGL tumours. Genetic testing of multiple candidate genes is increasingly performed in patients presenting with PCC/PGL tumours. We investigated the effectiveness of SDHB immunostaining as an initial screening tool in identifying SDH mutations.This was a retrospecti...

Mutations in the RET gene are responsible for Multiple Endocrine Neoplasia type 2A (MEN2A), characterised by Medullary Thyroid Carcinoma (MTC) and Pheochromocytoma (PCC). It is well recognised that there is a genotype-phenotype correlation regarding likelihood of endocrine tumour development. The American Thyroid Association (ATA) has published predictive grading to guide clinical management of patients with RET mutations.Aim: In this study, we aim to as...

IntroductionParagangliomas (PGLs) are neuroendocrine tumours that arise from neural crest-derived chromaffin cells. They can develop anywhere these cells exist from the base of the skull to the pelvis. All PGLs have neuro-secretory potential and can produce symptoms due to catecholamine excess. While the majority are benign they do have malignant potential. Mediastinal PGLs are rare and often have a strong genetic predisposition. A higher proportion of t...

Aim: We describe the natural history, treatment, and clinical outcomes of Multiple Endocrine Neoplasia type 2B (MEN2B) caused by the M918T RET pathogenic variant.Methods: Retrospective case notes review of all young people <18 years presenting to a quaternary paediatric endocrinology referral centre in the UK between 2005-2023 who have MEN2B caused by the M918T pathogenic variant in the RET proto-oncogene.<p clas...

Background: Phaeochromocytomas and paragangliomas (PPGLs) are histologically identical tumours that exhibit significant clinical heterogeneity. At least 40% of PPGLs arise due to the presence of a pathogenic germline variant (PGV) in a known susceptibility gene. PGVs affecting the mitochondrial enzyme succinate dehydrogenase (SDHA, SDHB, SDHC and SDHD) are the most common. Phenotypic features of PPGLs secondary to SDHB and SDHD PGVs are well...

75% of patients presenting with a phaeochromocytoma (PCC) or paraganglioma (PGL) have no relevant family history, but a germline pathogenic variant is identified in 30–40%. In our genetic endocrine clinic, over 80% of patients with malignant PCC or PGL have SDHA/SDHB/SDHC/SDHD/MAX or FH pathogenic variants identified, confirming high heritability in severe disease.We describe a series of seven patients from fiv...

Bladder Paragangliomas (PGLs) constitute < 1% of all bladder tumours and 5% in our patient cohort of 80 patients with tumours due to SDH deficiency. They often display an aggressive phenotype with metastatic disease and require long-term follow up. SDHB immunostaining plays a significant role in initial risk stratification and facilitating appropriate genetic testing. We present four cases of bladder PGLs; two with SDHB mutation, one SDHA and one is awaiting extended genet...