Karel Pacak, MD, PhD, DSc; W. Marston Linehan, MD; Graeme Eisenhofer, PhD; McClellan M. Walther, MD; David S. Goldstein, MD, PhD
Pacak K, Linehan WM, Eisenhofer G, Walther MM, Goldstein DS. Recent Advances in Genetics, Diagnosis, Localization, and Treatment of Pheochromocytoma. Ann Intern Med. 2001;134:315-329. doi: 10.7326/0003-4819-134-4-200102200-00016
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Published: Ann Intern Med. 2001;134(4):315-329.
Diploid cells have two copies of each gene. A tumor suppressor gene, such as the von Hippel–Lindau gene, is consistent with the Knudson model. In the hereditary form of cancer, the patient inherits a mutation of one copy of the gene. In the tumor, such as a pheochromocytoma in a patient with von Hippel–Lindau disease, the second copy is inactivated by a mechanism such as mutation or deletion.
Values in parentheses indicate expected numbers of patients with and without pheochromocytoma at different steps during diagnosis, assuming a 2% incidence of the tumor in a population of 1000 patients undergoing testing for clinically suspected pheochromocytoma (that is, 20 patients with and 980 without pheochromocytoma). CT = computed tomography; MRI = magnetic resonance imaging. * For continuation of the algorithm, see .
CT = computed tomography; MIBG = metaiodobenzylguanidine; MRI = magnetic resonance imaging; PET = positron emission tomography.
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