The clinical genetics of phaeochromocytoma and paraganglioma
Arch. endocrinol. metab. (Online)
;
61(5): 490-500, Sept.-Oct. 2017. tab, graf
Artigo
em Inglês
| LILACS
| ID: biblio-887599
ABSTRACT
ABSTRACT Phaeochromocytoma and paraganglioma are rare catecholamine-producing tumours, recognised to have one of the richest hereditary backgrounds of all neoplasms, with germline mutations seen in approximately 30% of patients. They can be a part of genetic syndromes such as MEN 2 or Neurofibromatosis type 1, or can be found as apparently sporadic tumours. Germline mutations are almost always found in syndromic patients. Nonetheless, apparently sporadic phaeochromocytoma too show high germline mutation rates. Early detection of a genetic mutation can lead to early diagnosis of further tumours via surveillance, early treatment and better prognosis. Apart from this, the genetic profile has important relevance for tumour location and biochemical profile, and can be a useful predictor of future tumour behaviour. It also enables family screening and surveillance. Moreover, recent studies have demonstrated significant driver somatic mutations in up to 75% of all tumours. Arch Endocrinol Metab. 2017;61(5):490-500
Texto completo:
DisponíveL
Índice:
LILACS (Américas)
Assunto principal:
Paraganglioma
/
Feocromocitoma
/
Neoplasias das Glândulas Suprarrenais
/
Mutação em Linhagem Germinativa
Tipo de estudo:
Estudo de rastreamento
Limite:
Humanos
Idioma:
Inglês
Revista:
Arch. endocrinol. metab. (Online)
Assunto da revista:
Endocrinologia
/
Metabolismo
Ano de publicação:
2017
Tipo de documento:
Artigo
País de afiliação:
Reino Unido
Instituição/País de afiliação:
University of Oxford/GB
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