Pheochromocytoma in von Hippel-Lindau disease and neurofibromatosis type 1

Giuseppe Opocher, Pierantonio Conton, Francesca Schiavi, Beatrice Macino, Franco Mantero

Research output: Contribution to journalArticle

44 Citations (Scopus)

Abstract

Clinical and genetic understanding of chromaffin tumors has been greatly enhanced in the last few years. Although some pheochromocytoma genes may still be unknown, the role of RET, VHL, SDHB, SDHD and NF1 genes is unequivocal and phenotypes are also being better characterized. The loss of function of VHL and NF1 genes can lead to a variety of tumors including phechromocytoma and their mechanism of action is under intensive investigation. Many different mutations are responsible for VHL gene inactivation but only missense mutations have been described so far in families with pheochromocytoma. Because of its large size extensive mutation analysis of the NF1 gene has seldom been performed, and mutations have only been identified in about 15% of patients. Several point mutations have been found in exon 31. Differences in pheochromocytoma phenotype in VHL or NF1 are not very pronounced, but it may be of some interest to consider the two groups separately. In VHL, pheochromocytoma has an earlier onset than in sporadic forms, it is often multiple, and malignancy is less frequent. The mean age of diagnosis is 28 years, the youngest patient being 5 years old. In NF1 patients pheochromocytoma phenotype is similar to sporadic forms. The mean age of pheochromocytoma onset is 42 years; 84% of patients have solitary adrenal tumors, 9.6% have bilateral adrenal disease and 6.1% have ectopic pheochromocytomas; malignant pheochromocytomas were identified in 11.5% of the cases. The group of pheochromocytoma susceptibility genes includes, along with the tumor suppressor genes VHL and NF1, the proto-oncogene RET and the genes encoding succinate dehydrogenase subunit D and succinate dehydrogenase subunit B. Whether there is a common pathway among these different genes is still a matter of debate.

Original languageEnglish
Pages (from-to)13-16
Number of pages4
JournalFamilial Cancer
Volume4
Issue number1
DOIs
Publication statusPublished - Mar 2005

Fingerprint

von Hippel-Lindau Disease
Neurofibromatosis 1
Pheochromocytoma
Genes
Succinate Dehydrogenase
Phenotype
Mutation
Neoplasms
Glandular and Epithelial Neoplasms
Proto-Oncogenes
Gene Silencing
Missense Mutation
Tumor Suppressor Genes
Age of Onset
Point Mutation
Exons

Keywords

  • NF1
  • Paraganglioma
  • Pheochromocytoma
  • Type 1 neurofibromatosis
  • VHL
  • Von Hippel-Lindau

ASJC Scopus subject areas

  • Cancer Research
  • Genetics

Cite this

Pheochromocytoma in von Hippel-Lindau disease and neurofibromatosis type 1. / Opocher, Giuseppe; Conton, Pierantonio; Schiavi, Francesca; Macino, Beatrice; Mantero, Franco.

In: Familial Cancer, Vol. 4, No. 1, 03.2005, p. 13-16.

Research output: Contribution to journalArticle

Opocher, Giuseppe ; Conton, Pierantonio ; Schiavi, Francesca ; Macino, Beatrice ; Mantero, Franco. / Pheochromocytoma in von Hippel-Lindau disease and neurofibromatosis type 1. In: Familial Cancer. 2005 ; Vol. 4, No. 1. pp. 13-16.
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