Genetic aspects of pheochromocytoma.
Endocr Regul
; 35(1): 43-52, 2001 Mar.
Article
en En
| MEDLINE
| ID: mdl-11308996
ABSTRACT
We here review the literature on genetics related to pheochromocytoma. About 10 percent of these neuroendocrine tumors are hereditary and are most often associated with multiple endocrine neoplasia type 2 (MEN 2), von Hippel-Lindau disease, and neurofibromatosis type 1 (NF 1). Hereditary tumor syndromes such as the aforementioned ones, are ideal to study the molecular pathogenesis of tumorigenesis as opposed to sporadic tumors in which genetic alterations often merely represent epigenetic tumor progression phenomena. Recent advances in molecular genetics, especially of RET, VHL, NF1, and SDHD, helped better understand the pathogenesis of pheochromocytoma. In this paper, we not only summarize key points of genetic discoveries related to pheochromocytoma, but also report in table format all known RET germline mutations related to pheochromocytoma.
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Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Feocromocitoma
/
Proteínas de Drosophila
/
Proteínas Supresoras de Tumor
/
Ubiquitina-Proteína Ligasas
/
Ligasas
Límite:
Humans
Idioma:
En
Revista:
Endocr Regul
Asunto de la revista:
ENDOCRINOLOGIA
Año:
2001
Tipo del documento:
Article
País de afiliación:
Estados Unidos