PMID- 26971848 OWN - NLM STAT- MEDLINE DCOM- 20161213 LR - 20181202 IS - 1878-1594 (Electronic) IS - 1521-690X (Linking) VI - 30 IP - 1 DP - 2016 Jan TI - Somatic and germline mutations in NETs: Implications for their diagnosis and management. PG - 115-27 LID - S1521-690X(15)00096-2 [pii] LID - 10.1016/j.beem.2015.09.007 [doi] AB - It is now understood that specific somatic and germline mutations may lead to the development of the neuroendocrine tumours (NETs). NETs usually occur as sporadic isolated tumours, although they also may present as part of complex familial endocrine cancer syndromes, such as multiple endocrine neoplasia type 1 (MEN1) and type 2 (MEN2), Von Hippel-Lindau (VHL) and neurofibromatosis syndromes, tuberous sclerosis, Carney triad and dyad, Reed syndrome and polycythaemia-paraganglioma syndromes. Only in MEN2 syndrome is there a specific genotype-phenotype correlation, although in both sporadic and syndromic NETs some gene mutations are associated with specific clinico-pathological features and prognosis. There have been several advances in our understanding of the NETs leading to earlier detection and targeted therapeutic treatment, but given the poor prognosis associated with metastatic NETs, it will be necessary to find new biomarkers for the prediction of malignant potential and to find novel therapeutic targets for NETs. CI - Copyright (c) 2015 Elsevier Ltd. All rights reserved. FAU - Minnetti, Marianna AU - Minnetti M AD - Dept. of Endocrinology, Oxford Centre for Diabetes, Endocrinology and Metabolism, Radcliffe Dept. of Medicine, University of Oxford, UK. FAU - Grossman, Ashley AU - Grossman A AD - Dept. of Endocrinology, Oxford Centre for Diabetes, Endocrinology and Metabolism, Radcliffe Dept. of Medicine, University of Oxford, UK. Electronic address: Ashley.grossman@ocdem.ox.ac.uk. LA - eng PT - Journal Article PT - Review DEP - 20151009 PL - Netherlands TA - Best Pract Res Clin Endocrinol Metab JT - Best practice & research. Clinical endocrinology & metabolism JID - 101120682 SB - IM MH - Genes, Neoplasm MH - Genetic Testing/methods MH - *Germ-Line Mutation MH - Humans MH - Neuroendocrine Tumors/diagnosis/*genetics/therapy OTO - NOTNLM OT - genetic OT - lung NETs OT - multiple endocrine neoplasia OT - mutation OT - neuroendocrine tumour OT - pancreatic NETs OT - paraganglioma/phaeocromocytoma OT - sporadic NETs OT - syndromic NETs EDAT- 2016/03/15 06:00 MHDA- 2016/12/15 06:00 CRDT- 2016/03/15 06:00 PHST- 2016/03/15 06:00 [entrez] PHST- 2016/03/15 06:00 [pubmed] PHST- 2016/12/15 06:00 [medline] AID - S1521-690X(15)00096-2 [pii] AID - 10.1016/j.beem.2015.09.007 [doi] PST - ppublish SO - Best Pract Res Clin Endocrinol Metab. 2016 Jan;30(1):115-27. doi: 10.1016/j.beem.2015.09.007. Epub 2015 Oct 9.