Endocrine Abstracts

Introduction: Adrenocortical carcinoma (ACC) is rare, with an incidence of 0.5-2 cases per million. Although generally aggressive, prognosis is highly variable and difficult to predict. Unlike other malignancies, there are no biomarkers routinely available for use in patients with ACC to help guide management. Circulating cell free tumour derived DNA (ctDNA), the proportion of circulating cell free DNA (cfDNA) originating from tumour cells, is a liquid biopsy that is quickly g...

Introduction: Our knowledge of the genomic background of neuroendocrine neoplasms (NENs) is rapidly expanding with more widespread use of sequencing technologies. Although known to be mutationally quiet compared to some other malignancies, many NENs harbour somatic copy number alterations (SCNAs), however the significance of these are unclear.Aims: We sought to identify SCNAs in a cohort of patients with NENs.Methods: Whole exome s...

Introduction: There is a clinical need to develop novel and better biomarkers to monitor patients with neuroendocrine neoplasms (NENs). Our aim was to identify and track plasma circulating cell free tumour derived DNA (ctDNA) in a cohort of patients using a personalised, patient specific approach.Materials and methods: 35 serial plasma samples were collected from 9 patients with metastatic NENs (6 small intestinal and 1 each of lung, ovarian, and pelvic;...

Introduction: Liquid biopsies have revolutionised cancer care, from accurate diagnosis to guiding treatment and surveillance. Here, we used shallow Whole Genome Sequencing (sWGS); a cost-effective and easy-to-perform test to explore concordance of copy number alterations (CNAs) between formalin-fixed paraffin-embedded (FFPE) tissue extracted DNA and circulating cell-free DNA (cfDNA) in patients with Thyroid Cancer (TC) during different stages of the disease. <...