Endocrine Abstracts

Introduction: Pheochromocytoma and Paraganglioma (PPGL) are neuroendocrine tumours arising from chromaffin cells in the adrenal medulla or ganglia in the autonomic nervous system. ~40% of PPGL arise due to germline mutation (commonly SDHx) and sporadic tumours frequently have causative somatic mutations. 15-20% of PPGL behave in a malignant manner. ~95% PPGL express somastostatin receptors and are GaDOTATATE avid. Lutathera® is a commercially available PR...

Genomics England with the consent of participants and the support of the public is creating a lasting legacy for patients, the NHS and the UK economy, through the sequencing of 100,000 genomes. 50,000 genomes from cancer, two per patient (tumour and a paired blood sample) and 50,000 from rare disease, three genomes per patient (affected person plus two blood relatives). The main project started sample collection in March 2015, aiming to collect samples by the end of 2017 throu...

Genetic testing plays an increasing role in diagnosing and managing patients with Multiple Endocrine Neoplasia (MEN). Advances in genetic testing technology, combined with a fall in the cost of analysis, provides the opportunity to test more patients as early as possible, to try to confirm or refute whether there is a genetic variant contributing to their endocrine neoplasia. If a MEN syndrome is confirmed genetically, then ongoing management and surveillance can be tailored, ...

The ret proto-oncogene (RET) encodes a transmembrane tyrosine kinase receptor of growth factors belonging to the glial-derived neurotrophic family, essential for the normal development of the kidneys, ureters, peripheral and enteric nervous system. Pathogenic variants in the RET gene result in multiple different phenotypes, which can range from isolated pathologies to multi-system disease, as a result of both loss and gain of RET function. Missense gain of function pathogenic ...

The PTEN gene is a tumour suppressor gene with high risk of breast, thyroid, endometrial, colorectal, kidney tumours and melanoma, mucocutaneous lesions, macular pigmentation, and macrocephaly. Germ line heterozygous pathogenic variants in this gene leads to a spectrum of disease now called PTEN hamartoma tumour syndrome (PHTS). Cowden syndrome (the predominant phenotype of PHTS) is estimated to affect 1:200,000 individuals - however it may be under-diagnosed. Guidelines for s...

Introduction: Multiple endocrine neoplasia type 2B (MEN2B) is a rare autosomal dominant neuroendocrine neoplasia syndrome characterised by early onset medullary thyroid carcinoma (MTC) in all patients, phaeochromocytoma and multiple extra-endocrine features. We present a case of late diagnosis of MEN2B illustrating the challenge of early diagnosis.Case report: A 12 year old boy presented after lifetime of investigation. There was no relevant family histo...

Introduction: Multiple endocrine neoplasia type 1(MEN1) is an autosomal dominant disorder resulting from pathogenic variant in tumour suppressor gene MEN1 and is characterized by parathyroid, pancreatic islet and anterior pituitary tumours. We describe an unusual case of MEN1 patient who presented with pancreatic neuroendocrine neoplasms (pNEN) prior to onset of puberty.Case report: A Caucasian boy with a diagnosis of ma...

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 ...

Background: Multiple endocrine neoplasia type 1 (MEN1) is a rare autosomal dominantly inherited condition predisposing to primary hyperparathyroidism (PHPT), pituitary tumors, gastroenteropancreatic tract neuroendocrine tumors (NET), thymic tumours and skin lesions. Clinical features are rare in the paediatric population and guidance exists on the screening for complications of MEN1.Objective: To describe clinical features and treatment outcomes in a sin...

Mutation in the genes encoding subunits of the succinate dehydrogenase enzyme complex, SDHB, SDHC and SDHD are associated with an increased risk of developing adrenal or extra-adrenal phaeochromocytoma and cervical paraganglioma. However, the penetrance in large kindreds has seldom been reported and the optimal screening for asymptomatic carriers has not been determined.The index case had a previous history of carotid body tumour and later died with meta...