Indications for genetic study in gastro-entero-pancreatic and thoracic neuroendocrine tumors

Abstract

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.

Keywords: Bronchial carcinoids; Carcinoides bronquiales; Carcinoides tímicos; Gastro-entero-pancreatic neuroendocrine tumours; Multiple endocrine neoplasia syndrome type 1; Neuroendocrine tumours; Síndrome de Von Hippel Lindau; Síndrome de neoplasia endocrina múltiple tipo 1; Thymic carcinoids; Tumores neuroendocrinos; Tumores neuroendocrinos gastro entero-pancreáticos; Von Hippel Lindau syndrome.