Variable clinical expression in patients with a germline MEN1 disease gene mutation: clues to a genotype-phenotype correlation
Clinics
;
67(supl.1): 49-56, 2012. ilus, tab
Artículo
en Inglés
| LILACS
| ID: lil-623131
ABSTRACT
Multiple endocrine neoplasia type 1 is an inherited endocrine tumor syndrome, predominantly characterized by tumors of the parathyroid glands, gastroenteropancreatic tumors, pituitary adenomas, adrenal adenomas, and neuroendocrine tumors of the thymus, lungs or stomach. Multiple endocrine neoplasia type 1 is caused by germline mutations of the multiple endocrine neoplasia type 1 tumor suppressor gene. The initial germline mutation, loss of the wild-type allele, and modifying genetic and possibly epigenetic and environmental events eventually result in multiple endocrine neoplasia type 1 tumors. Our understanding of the function of the multiple endocrine neoplasia type 1 gene product, menin, has increased significantly over the years. However, to date, no clear genotype-phenotype correlation has been established. In this review we discuss reports on exceptional clinical presentations of multiple endocrine neoplasia type 1, which may provide more insight into the pathogenesis of this disorder and offer clues for a possible genotype-phenotype correlation.
Texto completo:
Disponible
Índice:
LILACS (Américas)
Asunto principal:
Neoplasias Hipofisarias
/
Adenoma
/
Proteínas Proto-Oncogénicas
/
Mutación de Línea Germinal
/
Neoplasia Endocrina Múltiple Tipo 1
/
Estudios de Asociación Genética
Tipo de estudio:
Estudio pronóstico
Límite:
Humanos
Idioma:
Inglés
Revista:
Clinics
Asunto de la revista:
Medicina
Año:
2012
Tipo del documento:
Artículo
País de afiliación:
Países Bajos
Institución/País de afiliación:
University Medical Center Utrecht/NL
Similares
MEDLINE
...
LILACS
LIS