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Endocrine Abstracts (2017) 49 S2.1 | DOI: 10.1530/endoabs.49.S2.1

ECE2017 Symposia Evolving diagnostics in adrenal and neuroendocrine tumours (3 abstracts)

Role of genetic and biomarker tests for diagnosis of neuroendocrine tumours (NETs)

Raj Thakker


UK.


Neuroendocrine tumours (NETs) are a heterogeneous group of neoplasms that occur in different organs and give rise to tumours including carcinoids, pancreatic tumours (PNETs), pituitary adenomas, medullary thyroid carcinoma, and phaeochromocytomas. NETs usually occur as isolated non-familial tumours, but can also occur as hereditary and syndromic disorders, such as multiple endocrine neoplasia (MEN types 1–4), Von Hippel Lindau (VHL) and phaeochromocytoma/paraganglioma. Patients with NETs such as PNETs that do not secrete hormones (referred to as non-secreting or non-functioning PNETs) are often asymptomatic, and this may result in late diagnosis and presentation with metastases. Thus, there is an unmet need for new, reliable and specific biomarkers for early diagnosis that would improve patient survival and quality of life. Biomarkers, which are defined by the World Health Organisation as a substance, structure or process that can be measured in the body or its products and influence or predict the incidence of outcome or disease, for non-secreting NETs include pancreatic polypeptide, chromogranins, carcinoembryonic antigen, α-foetoprotein, neuron specific enolase and synaptophysin. However, these current biomarkers have poor sensitivity and specificity for non-secreting NETs thereby limiting their use for clinical decision making. Recently, detection of germline mutations of the MEN1 and VHL genes have been established as useful predictive biomarkers for the development of PNETs in families with these disorders. However, such familial mutations account for only approximately 3% of NETs. Additional biomarker development has also focussed on studying altered expression of the epigenome, transcriptome, proteinome and metabolome, as well as circulating DNA, microRNAs and tumour cells that can be released from tumours into the vasculature. These advances will be reviewed. Dr Kate E Lines, Dr Mark Stevenson & Professor Rajesh V Thakker.

Volume 49

19th European Congress of Endocrinology

Lisbon, Portugal
20 May 2017 - 23 May 2017

European Society of Endocrinology 

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