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Previous Volume 357:1311-1315 September 27, 2007 Number 13 Next

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SUMMARY

The first description of pheochromocytoma in 1886 has been attributed to Felix Fränkel, who described an 18-year-old woman with bilateral adrenal "sarcoma and angio-sarcoma." We reviewed the publication and then approached and assessed relatives of the patient to update the findings with the use of current technology. In-depth review revealed that the histopathological findings were consistent with pheochromocytoma. Because the proband was young and had bilateral disease at diagnosis, we hypothesized that she had an inherited condition. The presence of germ-line RET mutations in four living relatives demonstrates that the original patient and her family had multiple endocrine neoplasia type 2 and provides molecular evidence that she had pheochromocytoma.

Source Information

From the Departments of Nephrology (H.P.H.N., Z.E., A.C., B.B.), Ophthalmology (D.S.), and Pathology (M.W.), University of Freiburg Medical Center, Freiburg im Breisgau, Germany; the National Institute of Neurological Disorders and Stroke and Laboratory of Pathology, National Cancer Institute, Bethesda, MD (A.V.); the Department of Endocrinology, University of Padua School of Medicine, Padua, Italy (Z.E.); Hereditary Endocrine Cancer Group, Centro Nacional de Investigaciones Oncologicas, Madrid (A.C.); the Institute of Cardiology, Warsaw, Poland (A.J.); and the Genomic Medicine Institute, Lerner Research Institute, and Taussig Cancer Center, Cleveland Clinic Foundation, Cleveland (C.E.).

Address reprint requests to Dr. Neumann at Medizinische Universitätsklinik, Hugstetter Straße 55, D 79106 Freiburg, Germany, or at hartmut.neumann{at}uniklinik-freiburg.de.

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