Genomic Analyses of Endocrine and Neuroendocrine tumours
Research type
Research Study
Full title
Genomic Analyses of Endocrine and Neuroendocrine Tumours
IRAS ID
133065
Contact name
Helen Simpson
Contact email
Sponsor organisation
Cambridge University Hospitals
Duration of Study in the UK
5 years, 0 months, 1 days
Research summary
Endocrine and neuroendocrine tumours (NETs) are a heterogeneous and understudied group of neoplasms(1,2). Over the past few decades, improvements in diagnostic imaging and biochemical testing have resulted in increased detection of these tumours. NETs are often considered to be benign and indolent neoplasms, however, it is clear that these tumours have clear malignant potential and varying clinical manifestations as a result of dysrgulated hormone secretion(1). Endocrine and neuroendocrine tumours are recognised manifestations of some tumour susceptibility syndromes including Multiple Endocrine Neoplasia (MEN) and von Hippel Lindau disease, and for these disorders an understanding of the underlying genetic basis is beginning to emerge (3). Less clear are the genomic changes underlying sporadic, non-syndromic tumours, resulting in a paucity of diagnostic tests and drug targets to which therapeutics to treat these tumours can be developed.
The aim of the research described herein is to identify genomic and proteonomic signatures associated with both syndrome-associated and sporadic endocrine (including those arising from the pituitary, thyroid, parathyroid, adrenal, pancreas,testes, ovary, GI tract) and neuroendocrine tumours. Furthermore,studies will be undertaken to identify biomarkers in blood, urine and saliva samples obtained from patients with endocrine/neuroendocrine tumours and within tumour specimens by immunohistochemical methods. Correlation of findings with clinical phenotyping data (ie. biochemistry, radiology, clinical course) will allow patient subgroups to be identified and the marked heterogeneity of these tumours to be better understood.
It is anticipated that the discoveries made by these studies will facilitate a greater understanding of the biology of these tumours and ultimately lead to improved diagnostic methods and treatment.
References:
1) Kaltas, G.A., Besser, M., Grossman,A.B.(2004) The Diagnosis and Medical Management of Advanced Neuroendocrine Tumours. Endocrine Reviews 25(3):458-511.2)Ramage, J.K., Ahmed,A., Ardill,J. et al. (2012) Guidelines for the management of gastroenteropancreatic neuroendocrine (including carcinoid) tumours (NETs). Gut 61:6-32.
3) Capurso,G., Festa,S., Valente,R. et al. (2012) Molecular pathology and genetics of pancreatic endocrine tumours. Journal of Molecular Endocrinology 49:R37-R50.
REC name
East of England - Cambridge South Research Ethics Committee
REC reference
14/EE/1059
Date of REC Opinion
18 Nov 2014
REC opinion
Further Information Favourable Opinion