Endocrine Abstracts

Introduction: Germline and somatic inactivating MEN1 variants are associated with a wide range of inherited and sporadic endocrine tumours. MEN1 encodes the tumour suppressor Menin, a ubiquitously expressed scaffold protein, implicated in multiple cellular processes including transcription, epigenetic regulation, and modulation of key signaling pathways. Despite intensive study, the mechanisms leading to endocrine tumorigenesis remain ill-defined, in part ref...

Introduction: The successful implementation of clinical genetic testing relies on accurate variant interpretation, as misclassification can result in significant harm to the patient and wider family. Missense single nucleotide variants (SNVs) pose a particular challenge, with current interpretation methods often unable to differentiate pathogenic variants from rare neutral variants, resulting in high numbers of variants of uncertain significance (VUS), and diagnostic uncertain...

Background: Oncolytic viruses (OV) hold potential for not only delivering durable anti-tumor responses but also converting immunologically “cold” tumors to “hot” tumors. Seneca Valley Virus (SVV-001) is a naturally occurring oncolytic picornavirus found to have selectivity for tumor cells with neuroendocrine (NE) properties. Because of the paucity of syngeneic murine NE tumor models, we evaluated the efficacy of Seneca Valley Virus (SVV), in combination wit...

A 71 year old gentleman, known to have Renal Cell Carcinoma with metastasis to lung, mediastinum, spine and liver, was transferred to our services for management of T2/T3 Spinal root impingement. On admission he was noted to have severe hypercalcemia of 3.33mmol/l, mild hypophosphatemia 0.8mmol/land an ongoing acute kidney injury. He had appropriate initial management with intravenous fluids, and was started on dexamethasone 8 mg with PPI cover for the spinal metastasis. His i...

Case History: A 27 year-old lady, seven weeks gestation presented to ED during her second pregnancy with abdominal pain, vomiting, constipation and hyponatraemia (Na = 114mmol/l). She had attended twice earlier during her pregnancy with presumed hyperemesis gravidarum. Because urinary sodium was elevated at 181mmol/l, dehydration was deemed unlikely and she was initially treated as SIADH with 1.2L fluid restriction and 2.7% 200mls of hypertonic saline. Sertraline was held. Rep...

Case history: A 74-year old gentleman was referred from Urology clinic for hypercalcemia after being treated for left vesico-ureteric calculus causing mild hydronephrosis. Past medical history included asthma, eczema and hypertension. He had been taking calcium supplements for 5 years, but stopped 2 months prior to clinic. He was asymptomatic and quite well with no recent fracture.Investigations: Adjusted Ca ranged from 2.62 to 2.78 mmol/l, PTH from 2.6 ...

Introduction: Checkpoint inhibitor (CPI) related endocrine toxicities are increasingly commonly with the use of these new cancer agents. With one of the largest cancer departments in UK, we studied the clinical management and outcome of patients who developed different endocrine toxicities over the last five years, with the use of CTLA-4, PD-1 and PDL-1 agents.Methods: All patients treated with CPI between 1 Jan 2014 to 31 Jan 2019 were included for the ...

Background: Advances in next-generation sequencing facilitate the simultaneous evaluation of large numbers of cancer predisposition genes (CPGs) in patients with cancer irrespective of family history or tumour phenotype. Several studies have reported the frequent occurrence of germline mutations in CPGs in patients with discordant cancer types raising the possibility of novel gene-cancer associations. The current study aimed to evaluate the significance of germline mutations i...

A 53 year old male with a history of polysubstance abuse was admitted to A&E, having been found unconscious in the community with a blood glucose level of 1.2 mmol/l. Despite intramuscular glucagon and intravenous 20% dextrose administration, his blood glucose was confirmed to be 2.6 mmol/l on arrival in A&E. Neuroglycopaenia was refractory to multiple dextrose boluses and only stabilised following a continuous 20% 125 ml/hr dextrose infusion. Following admission to th...

Aim: Anti-thyroid treatment with carbimazole or propylthiouracil is the first-line treatment for autoimmune thyrotoxicosis in the UK. Following 12–18 months treatment there is a significant relapse rate (at least 50%). This study analysed the demographics and clinical features of 100 patients with relapsed thyrotoxicosis to examine which variables are predictive of relapse.Methods: This retrospective study included adult patients identified using ou...