PMID- 36396595 OWN - NLM STAT- MEDLINE DCOM- 20230321 LR - 20230321 IS - 2530-0180 (Electronic) IS - 2530-0180 (Linking) VI - 70 Suppl 1 DP - 2023 Mar TI - Indications for genetic study in gastro-entero-pancreatic and thoracic neuroendocrine tumors. PG - 63-73 LID - S2530-0180(22)00178-0 [pii] LID - 10.1016/j.endien.2022.11.014 [doi] AB - Gastro-entero-pancreatic (GEP-NET) and thoracic neuroendocrine tumours (NETs) are one of the most heritable groups of neoplasms in the body, being multiple endocrine neoplasia syndrome type 1 (MEN1), the genetic syndrome most frequently associated with this type of tumours. Moreover, Von Hippel Lindau syndrome, tuberous sclerosis, type 4 multiple neoplasia syndrome, and type 1 neurofibromatosis are associated with an increased risk of developing GEP-NETs. Another important aspect in GEP-NETs and thoracic NETs is the knowledge of the molecular background since the molecular profile of these tumours may have implications in the prognosis and in the response to specific treatments. This review summarizes the main indications for performing a genetic study in patients with GEP-NETs and thoracic NETs, and the methods used to carry it out. Moreover, it offers a description of the main hereditary syndromes associated with these NETs and their molecular background, as well as the clinical implications of the molecular profile. CI - Copyright (c) 2022 SEEN and SED. Published by Elsevier Espana, S.L.U. All rights reserved. FAU - Araujo-Castro, Marta AU - Araujo-Castro M AD - Unidad de Neuroendocrinologia, Departamento de Endocrinologia y Nutricion, Hospital Universitario Ramon y Cajal, Instituto Ramon y Cajal de Invesitigacion Sanitaria (IRYCIS), Madrid, Spain; Departamento de Medicina, Universidad de Alcala, Madrid, Spain. Electronic address: marta.araujo@salud.madrid.org. LA - eng PT - Journal Article PT - Review DEP - 20221114 PL - Spain TA - Endocrinol Diabetes Nutr (Engl Ed) JT - Endocrinologia, diabetes y nutricion JID - 101717565 SB - IM MH - Humans MH - *Neuroendocrine Tumors/genetics/pathology MH - *Pancreatic Neoplasms/genetics MH - *Stomach Neoplasms MH - *Intestinal Neoplasms/genetics MH - *Multiple Endocrine Neoplasia Type 1/genetics OTO - NOTNLM OT - Bronchial carcinoids OT - Carcinoides bronquiales OT - Carcinoides timicos OT - Gastro-entero-pancreatic neuroendocrine tumours OT - Multiple endocrine neoplasia syndrome type 1 OT - Neuroendocrine tumours OT - Sindrome de Von Hippel Lindau OT - Sindrome de neoplasia endocrina multiple tipo 1 OT - Thymic carcinoids OT - Tumores neuroendocrinos OT - Tumores neuroendocrinos gastro entero-pancreaticos OT - Von Hippel Lindau syndrome EDAT- 2022/11/18 06:00 MHDA- 2023/03/22 06:00 CRDT- 2022/11/17 22:10 PHST- 2021/10/13 00:00 [received] PHST- 2022/04/03 00:00 [accepted] PHST- 2022/11/18 06:00 [pubmed] PHST- 2023/03/22 06:00 [medline] PHST- 2022/11/17 22:10 [entrez] AID - S2530-0180(22)00178-0 [pii] AID - 10.1016/j.endien.2022.11.014 [doi] PST - ppublish SO - Endocrinol Diabetes Nutr (Engl Ed). 2023 Mar;70 Suppl 1:63-73. doi: 10.1016/j.endien.2022.11.014. Epub 2022 Nov 14.