When should genetic testing be performed in patients with neuroendocrine tumours?
Rev Endocr Metab Disord
; 18(4): 499-515, 2017 12.
Article
en En
| MEDLINE
| ID: mdl-28965289
ABSTRACT
Neuroendocrine tumours (NETs) are a heterogenous group of tumours arising from neuroendocrine cells in several sites around the body. They include tumours of the gastroenteropancreatic system, phaeochromocytoma and paraganglioma and medullary thyroid cancer. In recent years, it has become increasingly apparent that a number of these tumours arise as a result of germline genetic mutations and are inherited in an autosomal dominant pattern. The number of genes implicated is increasing rapidly. Identifying which patients are likely to have a germline mutation enables clinicians to counsel patients adequately about their future disease risk, and allows for earlier detection of at-risk patients through family screening. The institution of screening and surveillance programmes may in turn lead to a major shift in presentation patterns for some of these tumours. In this review, we examine the features which may lead a clinician to suspect that a patient may have an inherited cause of a NET and we outline which underlying conditions should be suspected. We also discuss what type of screening may be appropriate in a variety of situations.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Pruebas Genéticas
/
Tumores Neuroendocrinos
Tipo de estudio:
Prognostic_studies
Límite:
Humans
Idioma:
En
Revista:
Rev Endocr Metab Disord
Asunto de la revista:
ENDOCRINOLOGIA
/
METABOLISMO
Año:
2017
Tipo del documento:
Article
País de afiliación:
Reino Unido