Clinical and Genetic Characteristics of Patients with Neurofibromatosis Type 1 and Pheochromocytoma

To the Editor: Pheochromocytoma occurs in approximately 1 percent of patients with neurofibromatosis type 1. 1 Accordingly, germ-line mutations in the NF1 gene — the susceptibility gene for neurofibromatosis type 1 — are assumed to be one of the heritable causes of pheochromocytoma. 2 Given the prev...

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Published inThe New England journal of medicine Vol. 354; no. 25; pp. 2729 - 2731
Main Authors Bausch, Birke, Borozdin, Wiktor, Neumann, Hartmut P.H
Format Journal Article
LanguageEnglish
Published United States Massachusetts Medical Society 22.06.2006
Subjects
Adolescent
Adult
Aged
Aged, 80 and over
Genes, Neurofibromatosis 1
Germ-Line Mutation
Head and Neck Neoplasms - genetics
Heterozygote
Humans
Middle Aged
Neurofibromatosis 1 - complications
Neurofibromatosis 1 - genetics
Paraganglioma - genetics
Pheochromocytoma - genetics
Registries
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Summary:To the Editor: Pheochromocytoma occurs in approximately 1 percent of patients with neurofibromatosis type 1. 1 Accordingly, germ-line mutations in the NF1 gene — the susceptibility gene for neurofibromatosis type 1 — are assumed to be one of the heritable causes of pheochromocytoma. 2 Given the previous lack of relevant molecular data, we established and analyzed a registry for patients with neurofibromatosis type 1 and pheochromocytoma in collaboration with colleagues from 20 centers in Germany, other European countries, and the United States. We compared the findings for patients with neurofibromatosis type 1 with those for patients with other pheochromocytoma-related syndromes, including von . . .
Bibliography:SourceType-Other Sources-1
ObjectType-Article-2
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ObjectType-Correspondence-1
ISSN:0028-4793
1533-4406
DOI:10.1056/NEJMc066006