作者
Hartmut PH Neumann, Birke Bausch, Sarah R McWhinney, Bernhard U Bender, Oliver Gimm, Gerlind Franke, Joerg Schipper, Joachim Klisch, Carsten Altehoefer, Klaus Zerres, Andrzej Januszewicz, Wendy M Smith, Robin Munk, Tanja Manz, Sven Glaesker, Thomas W Apel, Markus Treier, Martin Reineke, Martin K Walz, Cuong Hoang-Vu, Michael Brauckhoff, Andreas Klein-Franke, Peter Klose, Heinrich Schmidt, Margarete Maier-Woelfle, Mariola Peçzkowska, Cesary Szmigielski, Charis Eng
发表日期
2002/5/9
期刊
New England Journal of Medicine
卷号
346
期号
19
页码范围
1459-1466
出版商
Massachusetts Medical Society
简介
Background
The group of susceptibility genes for pheochromocytoma that included the proto-oncogene RET (associated with multiple endocrine neoplasia type 2 [MEN-2]) and the tumor-suppressor gene VHL (associated with von Hippel–Lindau disease) now also encompasses the newly identified genes for succinate dehydrogenase subunit D (SDHD) and succinate dehydrogenase subunit B (SDHB), which predispose carriers to pheochromocytomas and glomus tumors. We used molecular tools to classify a large cohort of patients with pheochromocytoma with respect to the presence or absence of mutations of one of these four genes and to investigate the relevance of genetic analyses to clinical practice.
Methods
Peripheral blood from unrelated, consenting registry patients with pheochromocytoma was tested for mutations of RET, VHL, SDHD, and SDHB. Clinical data at first presentation and follow-up were …
引用总数
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HPH Neumann, B Bausch, SR McWhinney, BU Bender… - New England Journal of Medicine, 2002