Genetic aspects of pheochromocytoma

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

Research output: Contribution to journalArticle

47 Scopus citations


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
Issue number1
StatePublished - Mar 1 2001
Externally publishedYes


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

ASJC Scopus subject areas

  • Endocrinology, Diabetes and Metabolism
  • Endocrinology

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  • Cite this

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