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Previous Volume 346:1459-1466 May 9, 2002 Number 19 Next

	Full Text PDF PDA Full Text PowerPoint Slide Set Editorial by Dluhy, R. G. Letters Add to Personal Archive Add to Citation Manager Notify a Friend E-mail When Cited PubMed Citation

ABSTRACT

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 evaluated.

Results Among 271 patients who presented with nonsyndromic pheochromocytoma and without a family history of the disease, 66 (24 percent) were found to have mutations (mean age, 25 years; 32 men and 34 women). Of these 66, 30 had mutations of VHL, 13 of RET, 11 of SDHD, and 12 of SDHB. Younger age, multifocal tumors, and extraadrenal tumors were significantly associated with the presence of a mutation. However, among the 66 patients who were positive for mutations, only 21 had multifocal pheochromocytoma. Twenty-three (35 percent) presented after the age of 30 years, and 17 (8 percent) after the age of 40. Sixty-one (92 percent) of the patients with mutations were identified solely by molecular testing of VHL, RET, SDHD, and SDHB; these patients had no associated signs and symptoms at presentation.

Conclusions Almost one fourth of patients with apparently sporadic pheochromocytoma may be carriers of mutations; routine analysis for mutations of RET, VHL, SDHD, and SDHB is indicated to identify pheochromocytoma-associated syndromes that would otherwise be missed.

Source Information

From the Department of Nephrology and Hypertension (H.P.H.N., B.B., B.U.B., G.F.), the Department of Otolaryngology (J.S.), the Department of Neuroradiology (J.K.), and the Department of Radiology (C.A.), Albert Ludwigs University, Freiburg, Germany; the Clinical Cancer Genetics Program and Human Cancer Genetics Program, Comprehensive Cancer Center, and Division of Human Genetics, Department of Internal Medicine, Ohio State University, Columbus (S.R.M., O.G., C.E.); the Institute of Human Genetics, University of Aachen, Aachen, Germany (K.Z.); the Department of Hypertension, Institute of Cardiology, Warsaw, Poland (A.J.); and the Cancer Research Campaign, Human Cancer Genetics Research Group, University of Cambridge, Cambridge, United Kingdom (C.E.).

Drs. Neumann and Eng contributed equally to the article.

Other authors were Wendy M. Smith, B.A. (Human Cancer Genetics Program, Ohio State University, Columbus); Robin Munk, M.D., Tanja Manz, M.D., Sven Glaesker, M.D., and Thomas W. Apel, Ph.D. (Department of Nephrology, Clinics of the Albert Ludwigs University, Freiburg, Germany); Markus Treier, M.D. (Department of Otolaryngology, Clinics of the Albert Ludwigs University, Freiburg, Germany); Martin Reineke, M.D. (Department of Gastroenterology and Endocrinology, Clinics of the Albert Ludwigs University, Freiburg, Germany); Martin K. Walz, M.D. (Department of Surgery, Klinikum Essen-Mitte, Essen, Germany); Cuong Hoang-Vu, M.D., and Michael Brauckhoff, M.D. (Department of Surgery, University of Halle, Halle, Germany); Andreas Klein-Franke, M.D. (Department of Pediatrics, University of Göttingen, Göttingen, Germany); Peter Klose, M.D. (Department of Pediatrics, City Hospital, Munich-Harlaching, Germany); Heinrich Schmidt, M.D. (Department of Pediatrics, Ludwig-Maximilians University, Munich, Germany); Margarete Maier-Woelfle, M.D. (Department of Internal Medicine, Kantonsspital, St. Gallen, Switzerland); Mariola Peçzkowska, M.D. (Department of Hypertension, Institute of Cardiology, Warsaw, Poland); and Cesary Szmigielski, M.D. (Medical University, Warsaw, Poland).

Address reprint requests to Dr. Neumann at the Medizinische Universitätsklinik, Hugstetterstr. 55, D-79106 Freiburg, Germany, or at neumann{at}mm41.ukl.uni-freiburg.de.

Full Text of this Article

Related Letters:

Germ-Line Mutations in Nonsyndromic Pheochromocytoma
Strauchen J. A., Neumann H. P.H., Schipper J., Eng C.
Extract | Full Text | PDF  
N Engl J Med 2002; 347:854-855, Sep 12, 2002. Correspondence

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