 |
 |
|
|
|  PubMed
|
| |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
20 February 2001 | Volume 134 Issue 4 | Pages 315-329
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.
Author and Article Information
From the National Institutes of Health, Bethesda, Maryland.
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, karel{at}mail.nih.gov.
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. NIH CONFERENCE
Recent Advances in Genetics, Diagnosis, Localization, and Treatment of Pheochromocytoma
CiteULike 
Complore 
Connotea 
Del.icio.us 
Digg 
Facebook 
Reddit 
Technorati 
Twitter What's this?
Related articles in Annals:
This article has been cited by other articles:
|
|
 |
|
  A. A. Malik, A. E. Houni, H. Gulshad, S. Elsiah, and S. Al-Salam An interesting case of paraganglioma BMJ Case Reports, May 25, 2009; 2009(may25_1): bcr1020081150 - bcr1020081150. [Full Text]
|
|
|
|
 |
|
 H Kahal, E Cooper, R Sriraman, and D V Coppini A woman with a suprarenal mass and hypertension BMJ, March 4, 2009; 338(mar04_2): b333 - b333. [Full Text]
|
|
|
|
 |
|
 I. Ilias, C. C. Chen, J. A. Carrasquillo, M. Whatley, A. Ling, I. Lazurova, K. T. Adams, S. Perera, and K. Pacak Comparison of 6-18F-Fluorodopamine PET with 123I-Metaiodobenzylguanidine and 111In-Pentetreotide Scintigraphy in Localization of Nonmetastatic and Metastatic Pheochromocytoma J. Nucl. Med., October 1, 2008; 49(10): 1613 - 1619. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 R Armstrong, M Sridhar, K L Greenhalgh, L Howell, C Jones, C Landes, J L McPartland, C Moores, P D Losty, and M Didi Phaeochromocytoma in children Arch. Dis. Child., October 1, 2008; 93(10): 899 - 904. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 J. T. Adler, G. Y. Meyer-Rochow, H. Chen, D. E. Benn, B. G. Robinson, R. S. Sippel, and S. B. Sidhu Pheochromocytoma: Current Approaches and Future Directions Oncologist, July 1, 2008; 13(7): 779 - 793. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 A. Karagiannis, D. P Mikhailidis, V. G Athyros, and F. Harsoulis Pheochromocytoma: an update on genetics and management Endocr. Relat. Cancer, December 1, 2007; 14(4): 935 - 956. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 K. Pacak Preoperative Management of the Pheochromocytoma Patient J. Clin. Endocrinol. Metab., November 1, 2007; 92(11): 4069 - 4079. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
A. Chrisoulidou, G. Kaltsas, I. Ilias, and A. B Grossman The diagnosis and management of malignant phaeochromocytoma and paraganglioma Endocr. Relat. Cancer, September 1, 2007; 14(3): 569 - 585. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 K. L. Brain, J. Kay, and B. Shine Measurement of Urinary Metanephrines to Screen for Pheochromocytoma in an Unselected Hospital Referral Population Clin. Chem., November 1, 2006; 52(11): 2060 - 2064. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 F. W. Bowen, J. Civan, A. Orlin, and T. Gleason Management of Type A Aortic Dissection and a Large Pheochromocytoma: A Surgical Dilemma Ann. Thorac. Surg., June 1, 2006; 81(6): 2296 - 2298. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 J. Sullivan, T. Groshong, and J. D. Tobias Presenting Signs and Symptoms of Pheochromocytoma in Pediatric-aged Patients Clinical Pediatrics, October 1, 2005; 44(8): 715 - 719. [Abstract] [PDF]
|
|
|
|
|
|
R Nawar and D Aron Adrenal incidentalomas -- a continuing management dilemma Endocr. Relat. Cancer, September 1, 2005; 12(3): 585 - 598. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 S. J. Marx and W. F. Simonds Hereditary Hormone Excess: Genes, Molecular Pathways, and Syndromes Endocr. Rev., August 1, 2005; 26(5): 615 - 661. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 V. Kantorovich and K. Pacak A New Concept of Unopposed {beta}-Adrenergic Overstimulation in a Patient with Pheochromocytoma Ann Intern Med, June 21, 2005; 142(12_Part_1): 1026 - 1028. [Full Text] [PDF]
|
|
|
|
|
|
F M Brouwers, E F Petricoin III, L Ksinantova, J Breza, V Rajapakse, S Ross, D Johann, M Mannelli, B L Shulkin, R Kvetnansky, et al. Low molecular weight proteomic information distinguishes metastatic from benign pheochromocytoma Endocr. Relat. Cancer, June 1, 2005; 12(2): 263 - 272. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
T. W. A. Vogel, F. M. Brouwers, I. A. Lubensky, A. O. Vortmeyer, R. J. Weil, M. M. Walther, E. H. Oldfield, W. M. Linehan, K. Pacak, and Z. Zhuang Differential Expression of Erythropoietin and Its Receptor in von Hippel-Lindau-Associated and Multiple Endocrine Neoplasia Type 2-Associated Pheochromocytomas J. Clin. Endocrinol. Metab., June 1, 2005; 90(6): 3747 - 3751. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
L. Amar, A. Servais, A.-P. Gimenez-Roqueplo, F. Zinzindohoue, G. Chatellier, and P.-F. Plouin Year of Diagnosis, Features at Presentation, and Risk of Recurrence in Patients with Pheochromocytoma or Secreting Paraganglioma J. Clin. Endocrinol. Metab., April 1, 2005; 90(4): 2110 - 2116. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 J. E. Garber and K. Offit Hereditary Cancer Predisposition Syndromes J. Clin. Oncol., January 10, 2005; 23(2): 276 - 292. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
H. Brown, P. A. Goldberg, J. G. Selter, H. S. Cabin, N. J. Marieb, R. Udelsman, and J. F. Setaro Hemorrhagic Pheochromocytoma Associated with Systemic Corticosteroid Therapy and Presenting as Myocardial Infarction with Severe Hypertension J. Clin. Endocrinol. Metab., January 1, 2005; 90(1): 563 - 569. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
K. Pacak, G. Eisenhofer, and D. S. Goldstein Functional Imaging of Endocrine Tumors: Role of Positron Emission Tomography Endocr. Rev., August 1, 2004; 25(4): 568 - 580. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
G. A. Kaltsas, G. M. Besser, and A. B. Grossman The Diagnosis and Medical Management of Advanced Neuroendocrine Tumors Endocr. Rev., June 1, 2004; 25(3): 458 - 511. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
A. M. Sawka, A. Gafni, L. Thabane, and W. F. Young Jr. The Economic Implications of Three Biochemical Screening Algorithms for Pheochromocytoma J. Clin. Endocrinol. Metab., June 1, 2004; 89(6): 2859 - 2866. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
G. Mansmann, J. Lau, E. Balk, M. Rothberg, Y. Miyachi, and S. R. Bornstein The Clinically Inapparent Adrenal Mass: Update in Diagnosis and Management Endocr. Rev., April 1, 2004; 25(2): 309 - 340. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 V. D. Garovic, M. C. Hogan, S. K. R. Kanakiriya, C. S. Grant, and W. F. Young Jr Labile hypertension, increased metanephrines and imaging misadventures Nephrol. Dial. Transplant., April 1, 2004; 19(4): 1004 - 1006. [Full Text] [PDF]
|
|
|
|
|
|
L Zendron, J Fehrenbach, C Taverna, and M Krause Pitfalls in the diagnosis of phaeochromocytoma BMJ, March 13, 2004; 328(7440): 629 - 630. [Full Text] [PDF]
|
|
|
|
|
|
S. A. Lagerstedt, D. J. O'Kane, and R. J. Singh Measurement of Plasma Free Metanephrine and Normetanephrine by Liquid Chromatography-Tandem Mass Spectrometry for Diagnosis of Pheochromocytoma Clin. Chem., March 1, 2004; 50(3): 603 - 611. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
I. Ilias and K. Pacak Current Approaches and Recommended Algorithm for the Diagnostic Localization of Pheochromocytoma J. Clin. Endocrinol. Metab., February 1, 2004; 89(2): 479 - 491. [Full Text] [PDF]
|
|
|
|
|
|
I. Ilias, J. Yu, J. A. Carrasquillo, C. C. Chen, G. Eisenhofer, M. Whatley, B. McElroy, and K. Pacak Superiority of 6-[18F]-Fluorodopamine Positron Emission Tomography Versus [131I]-Metaiodobenzylguanidine Scintigraphy in the Localization of Metastatic Pheochromocytoma J. Clin. Endocrinol. Metab., September 1, 2003; 88(9): 4083 - 4087. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 J. Bryant, J. Farmer, L. J. Kessler, R. R. Townsend, and K. L. Nathanson Pheochromocytoma: The Expanding Genetic Differential Diagnosis J Natl Cancer Inst, August 20, 2003; 95(16): 1196 - 1204. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 C Bauters, M-C Vantyghem, E Leteurtre, M-F Odou, C Mouton, N Porchet, J-L Wemeau, C Proye, and P Pigny Hereditary phaeochromocytomas and paragangliomas: a study of five susceptibility genes J. Med. Genet., June 1, 2003; 40(6): e75 - 75. [Full Text] [PDF]
|
|
|
|
|
|
A. M. Sawka, R. Jaeschke, R. J. Singh, and W. F. Young Jr. A Comparison of Biochemical Tests for Pheochromocytoma: Measurement of Fractionated Plasma Metanephrines Compared with the Combination of 24-Hour Urinary Metanephrines and Catecholamines J. Clin. Endocrinol. Metab., February 1, 2003; 88(2): 553 - 558. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
M. Weise, D. P. Merke, K. Pacak, M. M. Walther, and G. Eisenhofer Utility of Plasma Free Metanephrines for Detecting Childhood Pheochromocytoma J. Clin. Endocrinol. Metab., May 1, 2002; 87(5): 1955 - 1960. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 J. W. M. Lenders, K. Pacak, M. M. Walther, W. M. Linehan, M. Mannelli, P. Friberg, H. R. Keiser, D. S. Goldstein, and G. Eisenhofer Biochemical Diagnosis of Pheochromocytoma: Which Test Is Best? JAMA, March 20, 2002; 287(11): 1427 - 1434. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
G. Eisenhofer Free or Total Metanephrines for Diagnosis of Pheochromocytoma: What Is the Difference? Clin. Chem., June 1, 2001; 47(6): 988 - 989. [Full Text] [PDF]
|
|
