Pheochromocytoma First International Symposium, Volume 1073

by Pacak, Karel; Eisenhofer, Graeme

• ISBN13: 9781573315975
• ISBN10: 1573315974
• Edition: 1st
• Format: Paperback
• Copyright: 2006-08-21
• Publisher: Wiley-Blackwell

Summary

Pheochromocytoma is a rare neuroendocrine tumor with a highly variable presentation. There is lack of agreement about the most efficient and cost-effective methods for diagnosis and localization of the tumor, which can be lethal if not identified and treated promptly.Autopsy studies indicate that up to 50% of all cases remain undiagnosed until death.Between 30 and 35% of the tumors have a hereditary basis. Development of malignancy is highly variable -- from less than 5% to more than 50% depending on the mutation; there is currently no effective cure.This volume encompasses a number of themes in several sections: genetics and clinical decision-making; genetics, molecular pathways of tumorigenesis, and divergent phenotypes; kaleidoscopic presentations and a minefield for differential diagnosis of pheochromocytoma; biochemical diagnosis: can we reach consensus?; tumor localization and the evolving importance of functional imaging; and new molecular markers and targets for diagnosis and treatment of malignant pheochromcytoma.NOTE: Annals volumes are available for sale as individual books or as a journal. For information on institutional journal subscriptions, please visit www.blackwellpublishing.com/nyas.ACADEMY MEMBERS: Please contact the New York Academy of Sciences directly to place your order (www.nyas.org). Members of the New York Academy of Science receive full-text access to the Annals online and discounts on print volumes. Please visit www.nyas.org/membership/main.asp for more information about becoming a member.

Author Biography

Karel Pacak is a professor who established the Pheochromocytoma Research Program at the NIH, one of the most prestigious and largest programs worldwide, and has published over 80 articles/book chapters on this topic. He has Introduced new biochemical and imaging approaches to this tumor, especially the use of 18F-fluorodopamine in localization of pheochromocytoma. He also developed new biochemical and imaging algorithms for pheochromocytoma for practicing physicians. Moreover, developed new animal model of metastatic pheochromocytoma. Currently working as the Chief of Section on Medical Neuroendocrinology, NICHD. He is also Professor of Medicine at Georgetown University, Washington DC and Charles University, Prague, Czech Republic.

Graham Eisenhofer is a clinical biochemist with broad experience in basic and patient-oriented research on neuroedocrine and autonomic nervous system function in health and disease. Relevant achievements include codevelopment with Dr. Jacques Lenders of the first HPLC method for measurements of plasma free metanephrines, a test now used for improved biochemical diagnosis of pheochromocytoma. Dr. Eisenhofer was also responsible for initial development of 18F-fluorodopamine as a positron emission tomographic imaging agent for visualizing sympathetic nerves and neuroendocrine tumors. Dr. Eisenhofer co-chairs the Pheochromocytoma RESearch Support ORganization.

Table of Contents

Preface.
By KAREL PACAK AND GRAEME EISENHOFER	xv
Part I. Presentation and Differential Diagnosis
An Overview of Pheochromocytoma: History, Current Concepts, Vagaries, and Diagnostic Challenges.
By WILLIAM M. MANGER	1	(20)
Paragangliomas: Clinical Overview.
By WILLIAM F. YOUNG, JR.	21	(9)
Characteristics of Pheochromocytoma in a 4- to 20-Year-Old Population.
By MARTA BARONTINI, GLORIA LEVIN, AND GABRIELA SANSO	30	(8)
1,111 Patients with Adrenal Incidentalomas Observed at a Single Endocrinological Center: Incidence of Chromaffin Tumors.
By ANNA A. KASPERLIK-ZALUSKA, ELZBIETA ROSLONOWSKA, JADWIGA SLOWINSKA-SRZEDNICKA, MACIEJ OTTO, ANDRZEJ CICHOCKI, JAROSLAW CWIKLA, RAFAL SLAPA, AND GRAEME EISENHOFER	38	(9)
Lack of Symptoms in Patients with Histologic Evidence of Pheochromocytoma: A Diagnostic Challenge.
By DEBBIE L. COHEN, DOUGLAS FRAKER, AND RAYMOND R. TOWNSEND	47	(5)
A Case of Catecholamine and Glucocorticoid Excess Syndrome Due to a Corticotropin-Secreting Paraganglioma.
By HOLGER S. WILLENBERG, JOACHIM FELDKAMP, REINER LEHMANN, MATTHIAS SCHOTT, PETER E. GORETZKI, AND WERNER A. SCHERBAUM	52	(7)
Catecholamine-Secreting Metastatic Carcinoid as Differential Diagnosis in Pheochromocytoma: Clinical, Laboratory, and Imaging Clues in the Search for the Lurking Neuroendocrine Tumor (NET).
By HENDRICKS H. WHITMAN III, ELLIOT K. FISHMAN, KJELL ÖBERG, JOSEPH M. WILDMAN, AND ANDREA L. LONG	59	(20)
Catecholamine Excretion and Circadian Blood Pressure Profile in Patients with Pheochromocytoma.
By ELZBIETA DABROWSKA, JACEK LEWANDOWSKI, PIOTR JEDRUSIK, BARTOSZ SYMONIDES, BOZENA WOCIAL, MARIUSZ LAPINSKI, AND ZBIGNIEW GACIONG	79	(7)
Characteristics of Blood Pressure in Pheochromocytoma.
By TOMÁŠ ZELINKA, KAREL PACÁK, AND JIRI WIDIMSKÝ, JR.	86	(8)
Part II. Genetics: Increasing Importance for Clinical Decision Making
Genetic Testing in Pheochromocytoma: Increasing Importance for Clinical Decision Making.
By STEFAN R. BORNSTEIN AND ANNE-PAULE GIMENEZ-ROQUEPLO	94	(10)
Genetic Testing in Pheochromocytoma- and Paragangiioma-Associated Syndromes.
By DIANA E. BENN, ANNE LOUISE RICHARDSON, DEBORAH J. MARSH, AND BRUCE G. ROBINSON	104	(8)
New Advances in the Genetics of Pheochromocytoma and Paraganglioma Syndromes.
By ANNE-PAULE GIMENEZ-ROQUEPLO	112	(10)
Genetic and Clinical Investigation of Pheochromocytoma: A 22-Year Experience, from Freiburg, Germany to International Effort.
By BIRKE BAUSCH, CARSTEN C. BOEDEKER, ANSGAR BERLIS, INGO BRINK, MARKUS CYBULLA, MARTIN K. WALZ, ANDRZEJ JANUSZEWICZ, CLAUDIO LETIZIA, GIUSEPPE OPOCHER, CHARIS ENG, AND HARTMUT P.H. NEUMANN	122	(16)
Genetic Analyses of Apparently Sporadic Pheochromocytomas: The Rotterdam Experience.
By E. KORPERSHOEK, F.H. VAN NEDERVEEN, H. DANNENBERG, B.J. PETRI, P. KOMMINOTH, A. PERREN, J.W. LENDERS, A.A. VERHOESTAD, W.W. DE HERDER, R.R. DE KRIJGER, AND W.N.M. DINJENS	138	(11)
Familial Nonsyndromic Pheochromocytoma.
By GIUSEPPE OPOCHER, FRANCESCA SCHIAVI, MAURIZIO IACOBONE, ANTONIO TONIATO, SABINA SATTAROVA, ZORAN ERLIC, MADDALENA MARTELLA, CATERINA MIAN, ISABELLA MERANTE BOSCHIN, LAURA ZAMBONIN, PAOLA DE LAZZARI, ALESSANDRA MURGIA, MARIA ROSA PELIZZO, GENNARO FAVIA, AND FRANCO MANTERO	149	(7)
Genetic Mutation Screening in an Italian Cohort of Nonsyndromic Pheochromocytoma/Paraganaoma Patients.
By M. CASTELLANO, L. MORI, M. GIACCHÈ, E. AGLIOZZO, TOSINI, A. PANAROTTO, C. CAPPELLI, P. MULATERO, D. CUMETTI, F. VEGLIO, AND E. AGABITI-ROSEI	156	(10)
Frequent Genetic Changes in Childhood Pheochromocytomas.
By RONALD R. DE KRUGER, FRANCTEN H. VAN NEDERVEEN, ESTHER KORPERSHOEK, WOUTER W. DE HERDER, SABINE M.P.F. DE MUINCK KETZER-SCHRAMA, AND WINAND N.M. DINJENS	166	(11)
The Occurrence of SDHB Gene Mutations in Pheochromocytoma.
By FRANCIEN H. VAN NEDERVEEN, WINAND N.M. DINJENS, ESTHER KORPERSHOEK, AND RONALD R. DE KRIJGER	177	(6)
SDH Mutations in Patients Affected by Paraganglioma Syndromes: A Personal Experience.
By M. MANNELLI, L. SIMI, T. ERCOLINO, M.S. GAGLIANÒ, L. BECHERINI, S. VINCI, R. SESTINI, F. GENSINI, P. PINZANI, M. MASCALCHI, L. GUERRINI, C. PRATESI, G. NESI, F. TORTI, F. CIPOLLINI, G.P. BERNINI, AND M. GENUARDI	183	(7)
Paraganglioma Syndrome: SDHB, SDHC, and SDHD Mutations in Head and Neck Paragangliomas.
By FRANCESCA SCHIAVI, THEODOROS SAVVOUKIDIS, FRANCO TRABALZINI, FRANCO GREGO, MICHELE PIAZZA, PIETRO AMISTÀ, SERENA DEMATTÈ, ANTONELLA DEL PIANO, MARIA ENRICA CECCHINI, ZORAN ERLIC, PAOLA DE LAZZARI, FRANCO MANTERO, AND GIUSEPPE OPOCHER	190	(8)
Germline Mutation of von Hippel–Lindau (VHL) Gene 695 G>A (R161Q) in a Patient with a Peculiar Phenotype with Type 2C VHL Syndrome.
By LIBERO SANTARPIA, DANIELA LAPA, AND SALVATORE BENVENGA	198	(5)
Von Hippel–Lindau Gene Mutation in Non-Syndromic Familial Pheochromocytomas.
By AN-LI TONG, ZHENG-PEI ZENG, HAN-ZHONG LI, DI YANG, LIN LU, MING LI, YA-RU ZHOU, PING ZHANG, SHI CHEN, AND WEI LIANG	203	(5)
Part III. Tumor Biology, Molecular Pathways, and Genotype Phenotype Relationships
Transcription Association of VHL and SDH Mutations Link Hypoxia and Oxidoreductase Signals in Pheochromocytomas.
By PATRICIA L.M. DAHIA FOR THE FAMILIAL PHEOCHROMOCYTOMA CONSORTIUM	208	(13)
A Phenotypic Perspective on Mammalian Oxygen Sensor Candidates.
By BORA E. BAYSAL	221	(13)
Molecular Implications of RET Mutations for Pheochromocytoma Risk in Multiple Endocrine Neoplasia	234	(7)
By TARANJIT S. GUJRAL AND LOIS M. MULLIGAN	234	(7)
Transcriptional Regulation of Phenylethanolamine N-Methyltransferase in Pheochromocytomas from Patients with von Hippel–Lindau Syndrome and Multiple Endocrine Neoplasia Type 2.
By THANH-TRUC HUYNH, KAREL PACAK, DONA L. WONG, W. MARSTON LINEHAN, DAVID S. GOLDSTEIN, ABDEL G. ELKAHLOUN, PETER J. MUNSON, AND GRAEME EISENHOFER	241	(12)
Expression of mRNAs for Succinate Dehydrogenase Subunits and Related Genes in Pheochromocytoma.
By KAZUMASA ISOBE, SUMIKO NISSATO, ICHIRO TATSUNO, TORU YASHIRO, KAZUHIRO TAKEKOSHI, AND YASUSHI KAWAKAMI	253	(10)
The Norepinephrine Transporter and Pheochromocytoma.
By SUSANNAH CLEARY AND JACQUELINE K. PHILLIPS	263	(7)
Expression and Effect of Adrenomedullin in Pheochromocytoma.
By ZHENG-PEI ZENG, DONG-MEI LIU, HAN-ZHONG LI, XIN-RONG FAN, GUO-QIANG LIU, WEI-GANG YAN, AN-LI TONG, AND XIN ZHENG	270	(7)
Expression and Effect of Transforming Growth Factor-a and Tumor Necrosis Factor-a in Human Pheochromocytoma.
By AN-LI TONG, ZHENG-PEI ZENG, HAN-ZHONG LI, DI YANG, LIN LU, AND MING LI	277	(7)
The Effects of Urotensin-II on Proliferation of Pheochromocytoma Cells and mRNA Expression of Urotensin-II and Its Receptor in Pheochromocytoma Tissues.
By ZHENG-PEI ZENG, GUO-QIANG LIU, HAN-ZHONG LI, XIN-RONG FAN, DONG-MEI LIU, AN-LI TONG, XIN ZHENG, AND CHANG LIU	284	(6)
Gene Expression Profiling of Rat Pheochromocytoma.
By ABDEL G. ELKAHLOUN, JAMES F. POWERS, ABRAHAM NYSKA, GRAEME EISENHOFER, AND ARTHUR S. TISCHLER	290	(10)
Animal Models of Pheochromocytoma Including NIH Initial Experience.
By SHOICHIRO OHTA, EDWIN W. LAI, SHUN'ICHIRO TANIGUCHI, ARTHUR S. TISCHLER, SALVATORE ALESCI, AND KAREL PACAK	300	(6)
DHEA Reduces NGF-Mediated Cell Survival in Serum-Deprived PC12 Cells.
By CHRISTIAN G. ZIEGLER, FLAVIE SICARD, SIMONE SPERBER, MONIKA EHRHART-BORNSTEIN, STEFAN R. BORNSTEIN, AND ALEXANDER W. KRUG	306	(6)
Role of DHEA and Growth Factors in Chromaffin Cell Proliferation.
By F. SICARD, A.W. KRUG, C.G. ZIEGLER, S. SPERBER, M. EHRHART-BORNSTEIN, AND S.R. BORNSTEIN	312	(5)
Analysis of PTEN Mutation in Non-familial Pheochromocytoma.
By JANUSZ PUC, GRZEGORZ PLACHA, BOZENNA WOCIAL, KATRINA PODSYPANINA, RAMON PARSONS, AND ZBIGNIEW GACIONG	317	(15)
Part IV. Biochemical Diagnosis and Tumor Localization
Biochemical Diagnosis and Localization of Pheochromocytoma: Can We Reach a Consensus?
By ASHLEY GROSSMAN, KAREL PACAK, ANNA SAWKA, JACQUES W.M. LENDERS, DEBRA HARLANDER, ROBERT T. PEASTON, RODNEY REZNEK, JAMES SISSON, AND GRAEME EISENHOFER	332	(16)
Diagnostic Value of Biochemical Parameters in the Differential Diagnosis of an Adrenal Mass.
By STEPHAN PETERSENN, NICOLE UNGER, MARTIN K. WALZ, AND KLAUS MANN	348	(10)
Multicenter Study on the Diagnostic Value of a New RIA for the Detection of Free Plasma Metanephrines in the Work-Up for Pheochromocytoma.
By TOMAS LENZ, JOACHIM ZORNER, CARL KIRCHMAIER, DANIELE PILLITTERI, KLAUS BADENHOOP, CHRISTINE BARTEL, HELMUT GEIGER, KATRIN HASSELBACHER, ULRICH TUSCHY, JÜRGEN WESTERMANN, AND LOTHAR SALEWSKI	358	(16)
Current Trends in Functional Imaging of Pheochromocytomas and Paragangliomas.
By BARRY L. SHULKIN, IOANNIS ILIAS, JAMES C. SISSON, AND KAREL PACAK	374	(9)
Changes in Urinary Total Metanephrine Excretion in Recurrent and Malignant Pheochromocytomas and Secreting Paragangliomas.
By LAURENCE AMAR, SÉVERINE PEYRARD, PATRICK ROSSIGNOL, FRANCK ZINZINDOHOUE, ANNE-PAULE GIMENEZ-ROQUEI'LO, AND PIERRE-FRANÇOIS PLOUIN	383	(9)
Anatomical and Functional Imaging of Tumors in Animal Models: Focus on Pheochromocytoma.
By LUCIA MARTINIOVA, SHOICHIRO OHTA, PETER GUION, DANIEL SCHIMEL, EDWIN W. LAI, BRENDA KLAUNBERG, ELAINE JAGODA, AND KAREL PACAK	392	(13)
Part V. Management
Management and Treatment of Pheochromocytomas and Paragangliomas.
By MASSIMO MANNELLI	405	(12)
Risk-Oriented Approach to Hereditary Adrenal Pheochromocytoma.
By ANDREAS MACHENS, MICHAEL BRAUCKHOFF, OLIVER GIMM, AND HENNING DRALLE	417	(12)
Treatment of Bilateral Pheochromocytoma and Adrenal Medullary Hyperplasia.
By SVANTE JANSSON, AMIR KHORRAM-MANESH, OLA NILSSON, LARS KÖLBY, LARS-ERIK TISELL, BO WÄNGBERG, AND HÅKAN AHLMAN	429	(7)
AT2 Receptor Stimulation May Halt Progression of Pheochromocytoma.
By MORRIS J. BROWN, ISLA S. MACKENZIE, MICHAEL J. ASHBY, KOTTEKKATTU K. BALAN, AND DEREK S. APPLETON	436	(8)
Mortality Associated with Pheochromocytoma: Increased Risk for Additional Tumors.
By AMIR KHORRAM-MANESH, SVANTE JANSSON, BO WÄNGBERG, OLA NILSSON, LARS-ERIK TISELL, AND HÅKAN AHLMAN	444	(5)
Part VI. Malignant Pheochromocytoma
Malignant Pheochromocytoma: State of the Field with Future Projections.
By HÅKAN AHLMAN	449	(16)
Malignant Pheochromocytomas and Paragangliomas: A Phase II Study of Therapy with High-Dose ¹³¹I-Metaiodobenzylguanidine (¹³¹I-MIBG).
By PAUL A. FITZGERALD, ROBERT E. GOLDSBY, JOHN P. HUBERTY, DAVID C. PRICE, RANDALL A. HAWKINS, JANET J. WATCH, FILEMON DELA CRUZ, THIERRY M. JAHAN, CHARLES A. LINKER, LLOYD DAMON, AND KATHERINE K. MATTHAY	465	(26)
Can Quantification of VMAT and SSTR Expression Be Helpful for Planning Radionuclide Therapy of Malignant Pheochromocytomas?
By LARS KÖLBY, PETER BERNHARDT, VIKTOR JOHANSON, BO WÄNGBERG, ANDREAS MUTH, SVANTE JANSSON, EVA FORSSELL-ARONSSON, OLA NILSSON, AND HÅKAN AHLMAN	491	(7)
Aspects on Radionuclide Therapy in Malignant Pheochromocytomas.
By EVA FORSSELL-ARONSSON, PETER BERNHARDT, BO WÄNGBERG, LARS KÖLBY, OLA NILSSON, AND HÅKAN AHLMAN	498	(7)
Courses of Malignant Pheochromocytoma: Implications for Therapy.
By JAMES C. SISSON, BARRY L. SHULKIN, AND NAZANENE H. ESFANDIARI	505	(7)
Malignant Pheochromocytoma in a Population-Based Study: Survival and Clinical Results.
By BO WÄNGBERG, ANDREAS MUTH, AMIR KHORRAM-MANESH, SVANTE JANSSON, OLA NILSSON, EVA FORSSELL-ARONSSON, LARSERIK TISELL, AND HÅKAN AHLMAN	512	(5)
Does the Expression of c-kit (CD117) in Neuroendocrine Tumors Represent a Target for Therapy?
By CHRISTIAN A. KOCH, OLIVER G1MM, ALEXANDER O. VORTMEYER, HAIFA K. AL-ALI, PETER LAMESCH, RUDOLF OTT, REGINE KLUGE, UTA BIERBACH, AND ANDREA TANNAPFEL	517	(10)
Expression and Processing of the Neuroendocrine Protein Secretogranin II in Benign and Malignant Pheochromocytomas.
By JOHANN GUILLEMOT, LAURE BARBIER, ERWAN THOUENNON, VIRGINIE VALLET-ERDTMANN, MAITE MONTERO-HADJADJE, HERVE LEFEBVRE, MARC KLEIN, MIHAELA MURESAN, PIERRE-FRANÇOIS PLOUIN, NABIL SEIDAH, HUBERT VAUDRY, YOUSSEF ANOUAR, AND LAURENT YON	527	(6)
Development of Novel Tools for the Diagnosis and Prognosis of Pheochromocytoma Using Peptide Marker Immunoassay and Gene Expression Profiling Approaches.
By YOUSSEF ANOUAR, LAURENT YON, JOHANN GUILLEMOT, ERWAN THOUENNON, LAURE BARBIER, ANNE-PAULE GIMENEZ-ROQUEPLO, JEROME BERTHERAT, HERVE LEFEBVRE, MARC KLEIN, MIHAELA MURESAN, ERIC GROUZMANN, PIERRE-FRANÇOIS PLOUIN, HUBERT VAUDRY, AND ABDEL G. ELKAHLOUN	533	(8)
Gene Expression Profiling of Benign and Malignant Pheochromocytoma.
By FREDERIEKE M. BROUWERS, ABDEL G. ELKAHLOUN, PETER J. MUNSON, GRAEME EISENHOFER, JENNIFER BARB, W. MARSTON LINEHAN, JACQUES W.M. LENDERS, RONALD DE KRIJGER, MASSIMO MANNELLI, ROBERT UDELSMAN, IDRIS T. OCAL, BARRY L. SHULKIN, STEFAN R. BORNSTEIN, JAN BREZA, LUCIA KSINANTOVA, AND KAREL PACAK	541	(16)
Part VII. Pathology
Pathology of Pheochromocytoma and Extra-adrenal Paraganglioma.
By ARTHUR S. TISCHLER, NORIKO KIMURA, AND ANNE MARIE MCNICOL	557	(14)
Distinct Expression of Galectin-3 in Pheochromocytomas.
By OLIVER Gimm, ULF KRAUSE, MICHAEL BRAUCKHOFF, CUONG HOANG-VU, AND HENNING DRALLE	571	(7)
Expression of Connexins in Chromaffin Cells of Normal Human Adrenals and in Benign and Malignant Pheochromocytomas.
By HOLGER S. WILLENBERG, MATTHIAS SCHOTT, WOLFGANG SAEGER, ANNETTE TRIES, WERNER A. SCHERBAUM, AND STEFAN R. BORNSTEIN	578	(7)
Index of Contributors	585