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Endocr Regul. 2001 Mar;35(1):43-52.

Genetic aspects of pheochromocytoma.

Author information

1
National Institutes of Health, SNB, Bethesda, Maryland 20892, U.S.A. Kochc@exchange.nih.gov

Erratum in

  • Endocr Regul 2001 Jun;35(2):94.

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.

PMID:
11308996
[Indexed for MEDLINE]

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