Karel Pacak, MD, PhD, DSc; W. Marston Linehan, MD; Graeme Eisenhofer, PhD; McClellan M. Walther, MD; David S. Goldstein, MD, PhD
An edited summary of a Clinical Staff Conference held on 29 September 1999 at the National Institutes of Health, Bethesda, Maryland.
Authors who wish to cite a section of the conference and specifically indicate its author may use this example for the form of the reference: Linehan WM, Walther MM.Molecular genetic abnormalities associated with pheochromocytoma. In: Pacak K, moderator. Recent advances in genetics, diagnosis, localization, and treatment of pheochromocytoma. Ann Intern Med. 2001; 134:316-7.
Acknowledgment:The authors thank Drs. J.W.M. Lenders and B. Zbar for important contributions to the work presented at the Clinical Staff Conference.
Requests for Single Reprints:Karel Pacak, MD, PhD, DSc, Pediatric and Reproductive Endocrinology Branch, National Institute of Child Health and Human Development, National Institutes of Health, Building 10, Room 9D42, 10 Center Drive MSC-1583, Bethesda, MD 20892-1583; e-mail, firstname.lastname@example.org.
Current Author Addresses:Dr. Pacak: Pediatric and Reproductive Endocrinology Branch, National Institute of Child Health and Human Development, National Institutes of Health, Building 10, Room 9D42, 10 Center Drive MSC-1583, Bethesda, MD 20892-1583.
Drs. Linehan and Walther: Urologic Oncology Branch, National Cancer Institute, Building 10, Room 2B43, 10 Center Drive MSC-1501, Bethesda, MD 20892-1501.
Drs. Eisenhofer and Goldstein: Clinical Neurocardiology Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Building 10, Room 6N252, 10 Center Drive MSC-1620, Bethesda, MD 20892-1620.
Pheochromocytoma is a rare but important tumor of chromaffin cells that is frequently considered in the evaluation of hypertension, arrhythmias, or panic disorder and in the follow-up of patients with particular genetic diseases. This report provides an update about the genetics, neurochemical diagnosis, localization by imaging, and surgical management of pheochromocytoma. Specific mutations of the RETproto-oncogene cause familial predisposition to pheochromocytoma in multiple endocrine neoplasia type II, and mutations in the von Hippel–Lindau tumor suppressor gene cause familial disposition to pheochromocytoma in von Hippel–Lindau disease. Recent findings demonstrating extraordinarily high sensitivity of plasma levels of metanephrines for detecting pheochromocytoma have led to an algorithm for clinical diagnostic steps. Nuclear imaging approaches, such as 123I-metaiodobenzylguanidine scintigraphy and 6-[18F]fluorodopamine positron emission tomography, enhance both diagnosis and localization of the tumor, as described in an algorithm for patients with positive biochemical test results. Since pheochromocytoma is often benign, surgical resection by laparoscopic adrenalectomy can be curative. Areas requiring further work include determining appropriate follow-up of patients with familial pheochromocytoma, elucidating the bases for phenotypic differences, improving both specificity and sensitivity of biochemical tests, optimizing cost-effectiveness of diagnostic imaging, and testing the risk for tumor recurrence after partial adrenalectomy.
Table 1. Hereditary Forms of Pheochromocytoma
The Knudson two-hit model.
Table 2. Sensitivity and Specificity of Biochemical Tests for Diagnosis of Pheochromocytoma
Algorithm showing use of biochemical tests for diagnosis of pheochromocytoma.
6-[F]Fluorodopamine positron emission tomography before and after left adrenelectomy for a large pheochromocytoma.
Imaging algorithm for patients whose results on biochemical tests are consistent with pheochromocytoma.
Table 3. Comparison of Sporadic Pheochromocytoma and Pheochromocytoma Associated with von Hippel–Lindau Disease
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Pacak K, Linehan WM, Eisenhofer G, Walther MM, Goldstein DS. Recent Advances in Genetics, Diagnosis, Localization, and Treatment of Pheochromocytoma. Ann Intern Med. ;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.
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