Endocrine Abstracts

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...

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...

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) are rare forms of neuroendocrine tumours arising from sympathetic paraganglionic tissue. They account for <1% of all Pheochromocytomas and Paragangliomas (PPGLs) and < 0.06% of all bladder tumours. All patients with PPGLs are recommended to be considered for genetic testing as ~ 40% of PPGLs are associated with a germline mutation, even if there is no prior family history of disease. Identifying an inherited PPGL predisposition has importa...

Background: Pathogenic variants in genes encoding Succinate Dehydrogenase subunits B and D (SDHB/SDHD) predispose to Phaeochromocytoma and Paraganglioma (PPGL). Cascade genetic screening identifies relatives at risk and allows surveillance screening to enable early detection of PPGLs.Methods: Retrospective analysis of genetic databases and hospital records between January 2000 and December 2018 identified relatives carrying SDHB and <em...