Endocrine Abstracts

Sclerotic bone lesions are a rare cause of hypocalcaemia. Calcium and vitamin D malabsorption are recognised complications of gastric bypass surgery. We describe the case of a 45 year-old woman with severe persistent symptomatic hypocalcaemia secondary to metastatic breast cancer, complicated by a previous Roux-en-Y gastric bypass, and the development of hypoparathyroidism. Her corrected calcium levels fell repeatedly and precipitously despite treatment with up to 8g/day oral ...

Background: Phaeochromocytoma and paraganglioma (PPGL) are highly heritable, with 30-40% due to a germline pathogenic variant. An additional 40% of tumours will harbour a somatic variant. Understanding the variant status of a tumour enables molecular classification. Liquid biopsy offers a novel approach to non-invasive diagnostics by harnessing the ability to detect small amounts of circulating-free DNA (cfDNA) and performing genomic sequencing. There are few ...

Background: Targeted radionuclide therapies (TRTs) have changed the treatment paradigm of neuroendocrine tumors (NET) and are expected to be widely available for patients with various gastroenteropancreatic (GEP)-NET phenotypes. However, while they have great potential, TRT-based therapeutic strategies for high-grade GEP-NET demonstrate variable outcomes, and there is a current lack of tools to identify patients who are likely to respond to TRT. To address this need, the rando...

Introduction: Over the last few years, there are some studies that suggests a close connection between Nonalcoholic Liver Disease (NAFLD) and increased cardiovascular (CV) risk in population with obesity. Indeed, these two conditions share common drivers, most notably insulin resistance and other elements of the metabolic syndrome. Notwithstanding the above, this affirmation does not have solid scientific evidence. The proliferation of Vasa Vasorum (VV) in the adventitial laye...

Introduction: The UK 100,000 Genomes Project (100KGP) investigated the genetic basis of rare disease. The molecular drivers of most paediatric pituitary disease remains unknown.Methods: Children with genetically unexplained pituitary disorders attending a tertiary paediatric endocrinology centre were recruited to the 100KGP and underwent whole genome sequencing. Parental DNA was obtained where feasible. Virtual gene panels were applied and bioinformatic ...

Background: Genomic structural variants (SVs) encompass a large portion of mutations driving cancer progression, however, there is a paucity of data regarding such drivers in metastatic neuroendocrine tumor (mNET). Existing studies have focused on short-read sequencing of primary NET samples, which can detect single nucleotide variants, but are unable to identify larger SVs. Such studies have demonstrated a low rate of genetic mutations. Optical genome mapping (OGM) represents...

Neuroendocrine neoplasms (NENs) are a highly heterogeneous group of tumors that arise from the diffuse neuroendocrine system and whose incidence has increased over the last years. Among them, pancreatic NENs (PanNENs) are relatively common and one of the most studied NENs. PanNENs are characterized by a low number of mutations, with some genes frequently mutated, such as MEN1, ATRX/DAXX, and mTOR signaling pathway genes. Despite genomics, transcripto...

Idiopathic Infantile Hypercalcemia (IIH) is a rare inborn form of severe vitamin D hypersensitivity, with an estimated incidence of 1:33.000 live birth and a high degree of misdiagnosis. Since the identification of CYP24A1 loss-of-function variants inducing IIH in 2011, over 41 pathogenic variants have been described, and represent the major genetic drivers of IIH1. CYP24A1 encodes the main catalytic hydroxylase of the bioactive form of vitamin D (1,25D3). Upon bind...

Background: Renal dysfunction is known to be more prevalent amongst patients with obesity. Metabolic and bariatric surgery is associated with positive renal effects through intricate pathways. We aimed to determine the short-term impact of laparoscopic sleeve gastrectomy (LSG) on renal function and to identify parameters associated with its variation.Materials and methods: We performed a retrospective study on 268 patients (115 males and 153 females) eva...

Section 1&2: Case history and investigations: We report the case of a 52-year-old man with recurrent immunodeficiency-related Burkitt’s lymphoma. 11 years following remission of his disease he presented with a firm lump in the parotid region. A biopsy showed histopathological evidence of a relapse. An 18F FDG PET was undertaken to determine the extent of the disease and response to R-DHAX chemotherapy. Areas of high uptake were identified in both sides of t...