Genetic aspects of pheochromocytoma

Christian A. Koch, Alexander Vortmeyer, Steve C. Huang, Salvatore Alesci, Zhengping Zhuang, Karel Pacak

Research output: Contribution to journalArticle

44 Citations (Scopus)

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.

Original languageEnglish (US)
Pages (from-to)43-52
Number of pages10
JournalEndocrine Regulations
Volume35
Issue number1
StatePublished - Mar 1 2001
Externally publishedYes

Fingerprint

Pheochromocytoma
Multiple Endocrine Neoplasia Type 2a
von Hippel-Lindau Disease
Neoplasms
Neurofibromatosis 1
Neuroendocrine Tumors
Germ-Line Mutation
Epigenomics
Molecular Biology
Carcinogenesis

Keywords

  • Genetics
  • LOH
  • NF1
  • Pheochromocytoma
  • RET
  • VHL

ASJC Scopus subject areas

  • Endocrinology, Diabetes and Metabolism
  • Endocrinology

Cite this

Koch, C. A., Vortmeyer, A., Huang, S. C., Alesci, S., Zhuang, Z., & Pacak, K. (2001). Genetic aspects of pheochromocytoma. Endocrine Regulations, 35(1), 43-52.

Genetic aspects of pheochromocytoma. / Koch, Christian A.; Vortmeyer, Alexander; Huang, Steve C.; Alesci, Salvatore; Zhuang, Zhengping; Pacak, Karel.

In: Endocrine Regulations, Vol. 35, No. 1, 01.03.2001, p. 43-52.

Research output: Contribution to journalArticle

Koch, CA, Vortmeyer, A, Huang, SC, Alesci, S, Zhuang, Z & Pacak, K 2001, 'Genetic aspects of pheochromocytoma', Endocrine Regulations, vol. 35, no. 1, pp. 43-52.
Koch CA, Vortmeyer A, Huang SC, Alesci S, Zhuang Z, Pacak K. Genetic aspects of pheochromocytoma. Endocrine Regulations. 2001 Mar 1;35(1):43-52.
Koch, Christian A. ; Vortmeyer, Alexander ; Huang, Steve C. ; Alesci, Salvatore ; Zhuang, Zhengping ; Pacak, Karel. / Genetic aspects of pheochromocytoma. In: Endocrine Regulations. 2001 ; Vol. 35, No. 1. pp. 43-52.
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