Pheochromocytoma

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 http://www.nyas.org/MemberCenter/Join.aspx for more information about becoming a member

Introduction: Karel Pacak and Graeme Eisenhofer. Part I: Pheochromocytoma: A Kaleidoscope of Presentations and a Minefield for Differential Diagnosis: 1. Diagnostic Challenges and Vagaries of Pheochromocytoma: William M. Manger. 2. Clinical Characteristics of Incidentally-Discovered Pheochromocytoma Based on Experience in 50 Proven Cases: Emmanuel L. Bravo. 3. Clinical Experience with 1080 Adrenal Incidentalomas Observed at a Single Endocrinological Center: A Place for Chromaffin Tumors: Anna Kasperlik-Zaluska. 4. Characteristics of pheochromocytoma in a 4- to 20-year-old population: Marta Barontini. 5. Pheochromocytoma During Pregnancy: A Literature Survey: Henri Timmers. 6. Lack of Symptomatology in Patients with Histological Evidence of Pheochromocytoma: A Diagnostic Challenge: Debbie L. Cohen. Part II: Genetics: Increasing Importance for Clinical Decision-Making:. 7. Predictors and Prevalence of Paraganglioma Syndrome Associated with Mutations of the SDHC Gene: Hartmut Neumann. 8. Genetic Analysis of Pheochromocytoma: The Rotterdam Experience: Winand N.M. Dinjens. 9. Molecular Genetic Analysis of the NF1 Gene in Neurofibromatosis-Associated Pheochromocytoma: Birke Bausch. 10. Candidate Gene Mutation Analysis in Pediatric Pheochromocytomas: Ronald R. de Krijger. 11. Familial Non-Syndromic Pheochromocytoma: Giuseppe Opocher. 12. Genetic Mutation Screening in an Italian Cohort of Non-Syndromic Pheochromocytoma/ Paraganglioma Patients: Maurizio Castellano. 13. Importance of SDHB Mutation Testing in Patients with Malignant Pheochromocytoma: Frederieke Brouwers. Part III: Pheochromocytoma/Paraganglioma Syndromes:. 14. Paragangliomas: Clinical Overview: William F. Young, Jr. 15. Genetics of Pheochromocytoma/Paraganglioma Syndromes: Anne-Paule Gimenez-Roqueplo. 16. SDHD, SDHB Mutations: Different Phenotype and Penetrance (International SDH Consortium): Diana Benn. 17. Mutational Spectrum of Paragangliomas Obtained from Archival Paraffin Sections: Jeffrey Kant. 18. Sporadic SDHB Mutation in an Extra-Adrenal Pheochromocytoma: Francien H. Van Nederveen. 19. SDHD Founder Mutation in Italian Families with Head and Neck Paraganglioma: Francesca Schiavi. Part IV: Tumor Biology, Molecular Pathways of and Genotype/Phenotype Relationships:. 20. Role of Familial Pheochromocytoma Genes in Developmental Culling of Sympathetic Progenitors: William Kaelin. 21. RET Receptor Signalling: Dissecting Receptor Function and Dysfunction: Lois Mulligan. 22. Hereditary Paraganglioma: An Emerging Link Between Krebs Cycle and Hypoxic Signaling: Bora E. Baysal. 23. Linking Hypoxia and Redox Signals in Pheochromocytoma: Transcription Association of VHL and SDH Mutations: Patricia Dahia. 24. Expression of mRNAs for Succinate Dehydrogenase Subunits and Related Genes in Pheochromocytoma: Kazumasa Isobe. 25. Low SDHB Expression by Immunohistochemistry Discriminates Pheochromocytoma with SDHB, SDHD and VHL Mutations from Other Hereditary Forms: Sandro Santagata. 26. Mouse Pheochromocytoma Cell Lines Reveal Transcriptional Silencing of Adrenergic Phenotype by Neurotrophin and cAMP: Marian J. Evinger. Part V: Biochemical Diagnosis and Tumor Localization:. 27. Plasma Free Metanephrines for Diagnosis of Pheochromocytoma: False Positives and Effects of Sampling Conditions: Jacques W.M. Lenders. 28. Advancements in Biochemical Diagnosis of Pheochromocytoma: Ravinder Singh. 29. Multicenter Study on the Diagnostic Value of a New RIA for the Detection of Free Plasma Metanephrines in the Work-Up for Pheochromocytoma: Tomas Lenz. 30. Diagnostic Value of Plasma and Urinary Metanephrines and Catecholamines for the Diagnosis of Pheochromocytoma in Patients with Adrenal mass: Stephan Petersenn. 31. Evolving Role of PET Imaging for Diagnostic Localization of Pheochromocytoma: Karel Pacak. 32. Elusive Pheochromocytomas: Detection with Functional Imaging Using MIBG and FDG PET: Barry L. Shulkin. Part VI: Management and Treatment of Pheochromocytoma:. 33. Risk-Oriented Surgical Approach to Hereditary Pheochromocytoma: Henning Dralle. 34. The Course of Urinary Metanephrine Excretion in Recurrent and Malignant Pheochromocytoma: Pierre-Francois Plouin. 35. Mortality Associated with Pheochromocytoma: Increased Risk of Additional Tumors: Amir Khorram-Manesh. 36. Clinical Analysis and Management of Pheochromocytoma: Experience from 360 Cases in Peking Union Medical College Hospital (PUMCH), Beijing, China: Zheng-pei Zeng. 37. Magnesium Sulfate in the Perioperative Management of Pheochromocytoma: Michael F. James. 38. Treatment of Bilateral Pheochromocytoma and Adrenal Medullary Hyperplasia: Svante Jansson. Part VII: Malignant Pheochromocytoma:. 39. Phase II Study of High-Dose 131I-MIBG Therapy for Patients with Malignant Pheochromocytoma and Paraganglioma: Paul A. Fitzgerald. 40. 131I-MIBG Radiotherapy: Long-term Experience with Treatment of Malignant Pheochromocytoma and Paraganglioma: Jon P. Gockerman. 41. AT2 Receptor Stimulation May Halt Progression of Pheochromocytoma: Morris J. Brown. 42. Can Quantification of VMAT and SSTR Expression be Helpful for Planning Radionuclide Therapy of Malignant Pheochromocytomas: Lars Kölby. 43. Development of Novel Tools for the Diagnosis and Prognosis of Pheochromocytomas Using Peptide Marker Immunoassay and Gene Expression Profiling Approaches: Youssef Anouar. 44. Gene Expression Profiling of Benign and Malignant Pheochromocytoma: New Markers for Prognosis and Targets for Treatments: Peter Munson & Graeme Eisenhofer