9781573315975

Pheochromocytoma, Annals of the New York Academy of Sciences, Volume 1073 First International Symposium

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  • ISBN13:

    9781573315975

  • ISBN10:

    1573315974

  • Format: Paperback
  • Copyright: 2006-08-21
  • Publisher: Wiley-Blackwell
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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.

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

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