Endocrine Abstracts

Background: Sporadic non-functioning pituitary adenomas (NFPAs) are described as having quiet mutational landscapes. Genes with recurrent somatic alterations have not been identified by previous studies examining heterogeneous pituitary tumour populations. Existing biomarkers have limited ability to discriminate NFPAs with a predisposition for regrowth from those that will follow a more indolent course after primary surgery. We undertook somatic sequencing, in an enriched coho...

Regulators are concerned about the potential for environmental chemicals such as agrochemicals and their metabolites to perturb hormone systems. This has led to recommendations for the testing of potential endocrine disrupting chemicals1. The Steroidogenesis H295R assay is an in vitro cell model used to investigate compound effects on steroid hormone biosynthesis, specifically 17β-estradiol (E2) and testosterone (T). The human H295R adreno-carcinoma ce...

A 38 year old female was identified as carrying a heterozygous pathogenic MEN1 variant (c.13404delG) through predictive testing, following a diagnosis of familial hyperparathyroidism. Routine screening for hyperparathyroidism and pituitary disease was negative. However, a CT thorax-abdomen-pelvis revealed a 41 mm pancreatic tail mass. Biopsy via endoscopic ultrasound confirmed a well-differentiated (grade 1) pancreatic neuroendocrine tumour (pNET) with MIB1<1%. Bi...

Recent discoveries in mutations in TCA cycle enzymes; succinate dehydrogenase (SDH), fumarate hydratase (FH), iso-citrate dehydrogenase (IDH) and malate dehydrogenase MDH2, have reinforced the link between mitochondrial dysfunction and cancer1. Phaeochromocytoma and paraganglioma (PPGL) are now recognised to be the most heritable tumour, with 40%1 having a genetic defect. Mutations in the SDH genes are the most frequently implicated genetic abnor...