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Neuroblastoma
Pediatric Cancer, Volume 1
Diagnosis, Therapy, and Prognosis
For other titles published in this series, go towww.springer.com/series/10167
Pediatric CancerVolume 1
Diagnosis, Therapy, and Prognosis
Neuroblastoma
Edited by
M.A. HayatDistinguished ProfessorDepartment of Biological Sciences,Kean University, Union, NJ, USA
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EditorM.A. HayatDepartment of Biological SciencesKean UniversityUnion, NJ, [email protected]
ISSN 2211-7997 e-ISSN 2211-8004ISBN 978-94-007-2417-4 e-ISBN 978-94-007-2418-1DOI 10.1007/978-94-007-2418-1Springer Dordrecht Heidelberg London New York
Library of Congress Control Number: 2011939493
© Springer Science+Business Media B.V. 2012No part of this work may be reproduced, stored in a retrieval system, or transmitted in any formor by any means, electronic, mechanical, photocopying, microfilming, recording or otherwise,without written permission from the Publisher, with the exception of any material suppliedspecifically for the purpose of being entered and executed on a computer system, for exclusiveuse by the purchaser of the work.
Printed on acid-free paper
Springer is part of Springer Science+Business Media (www.springer.com)
Although touched by technology, surgical pathology always hasbeen, and remains, an art. Surgical pathologists, like all artists,depict in their artwork (surgical pathology reports) their inter-actions with nature: emotions, observations, and knowledge areall integrated. The resulting artwork is a poor record of complexphenomena.
Richard J. Reed MD
One Point of View
All small tumors do not keep growing, especially small breast tumors,testicular tumors, and prostate tumors. Some small tumors may even dis-appear without a treatment. Indeed, because prostate tumor grows slowly,it is not unusual that a patient may die, at an advanced age, of some othercauses, but prostate tumor is discovered in an autopsy study. In some casesof prostate tumors, the patient should be offered the option of active surveil-lance followed by PSA test or biopsies. Similarly, every small kidney tumormay not change or may even regress. Another example of cancer or precan-cer reversal is cervical cancer. Precancerous cervical cells found with Paptest, may revert to normal cells. Tumor shrinkage, regression, reversal, orstabilization is not impossible. The pertinent question is: Is it always nec-essary to practice tumor surgery, chemotherapy, or radiotherapy? Althoughthe conventional belief is that cancer represents an “arrow that advances uni-directionally,” it is becoming clear that for cancer to progress, they requirecooperative microenvironment (nitch), including immune system and hor-mone levels. However, it is emphasized that advanced (malignant) cancersdo not show regression, and require therapy. In the light of the inadequacyof standard treatments of malignancy, clinical applications of the stem celltechnology need to be expedited.
Eric Hayat
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Preface
Volume 1 discussing diagnosis, therapy, and prognosis of children with neu-roblastoma is part of the series, “Pediatric Cancer”. It is recognized thatscientific journals and books not only provide current information but alsofacilitate exchange of information, resulting in rapid progress in the medicalfield. In this endeavor, the main role of scientific books is to present currentinformation in more detail after careful additional evaluation of the investiga-tional results, especially those of new or relatively new therapeutic methodsand their potential toxic side-effects.
Although subjects of diagnosis, cancer recurrence including neuroblas-toma, resistance to chemotherapy, assessment of treatment effectiveness,including cell therapy and side-effects of a treatment are scattered in a vastnumber of journals and books, there is need of combining these subjectsin single volumes. An attempt will be made to accomplish this goal in theprojected multi-volume series of Handbooks.
In the era of cost-effectiveness, my opinion may be minority perspective,but it needs to be recognized that the potential for false-positive or false-negative interpretation on the basis of a single laboratory test in clinicalpathology does exist. Interobservor or intraobservor variability in the inter-pretation of results in pathology is not uncommon. Interpretative differencesoften are related to the relative importance of the criteria being used.
Generally, no test always performs perfectly. Although there is no perfectremedy to this problem, standardized classifications with written definitionsand guidelines will help. Standardization of methods to achieve objectivity isimperative in this effort. The validity of a test should be based on the care-ful, objective interpretation of the tomographic images, photo-micrographs,and other tests. The interpretation of the results should be explicit ratherthan implicit. To achieve accurate diagnosis and correct prognosis, the use ofmolecular criteria and targeted medicine is important. Equally important arethe translation of molecular genetics into clinical practice and evidence-basedtherapy. Translation of medicine from the laboratory to clinical applicationneeds to be carefully expedited. Indeed, molecular medicine has arrived.
Introduction of new technologies and their applications to neuroblas-toma diagnosis, treatment, and therapy assessment are explained in thisvolume. Role of molecular genetics in diagnosis and therapy is presented.Molecular detection of minimal residual neuroblastoma is described. Earlydiagnosis of this disease is included. Magnetic resonance imaging and spec-troscopy are detailed for diagnosing this solid, extracranial cancer. Targets for
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therapeutic intervention in neuroblastoma are identified, including targetingmultidrug resistance in this cancer. Ornithine decarboxylase and polyaminesare novel targets for therapeutic intervention. The effectiveness of chemother-apy with oral irinotecan and temozolomide is explained. Antibody-basedimmunotherapy for this tumor is presented. Perspectives for the use of IL-21in immunotherapy are discussed. Role of transcription factors (GATA) in neu-roblastoma progression is explained. Also, is explained the role of hypoxiaand hypoxia-inducible factors in tumor progression. MicroRNAs are smallnon-coding RNA molecules that reduce the translation of target mRNAs.microRNAs play an important role in cell proliferation, apoptosis, differenti-ation, and cancer development. Role of N-myc on microRNA expression inMYCN-amplified neuroblastoma is described.
By bringing together a large number of experts (oncologists, neurosur-geons, physicians, research scientists, and pathologists) in various aspectsof this medical field, it is my hope that substantial progress will be madeagainst this terrible disease. It would be difficult for a single author to discusseffectively the complexity of diagnosis, therapy, and prognosis of any type oftumor in one volume. Another advantage of involving more than one authoris to present different points of view on a specific controversial aspect of thepediatric cancer. I hope these goals will be fulfilled in this and other volumesof this series. This volume was written by 53 contributors representing 12countries. I am grateful to them to for their promptness in accepting my sug-gestions. Their practical experience highlights their writings, which shouldbuild and further the endeavors of the reader in this important area of disease.I respect and appreciate the hard work and exceptional insight into the natureof neuroblastoma provided by these contributors. The contents of the vol-ume are divided into 4 subheadings: Introduction, Diagnosis and Biomarkers,Therapy and Prognosis for the convenience of the readers.
It is my hope that the current volume will join the future volumes of theseries for assisting in the more complete understanding of globally relevantneuroblastoma syndrome. There exists a tremendous, urgent demand by thepublic and the scientific community to address to cancer, diagnosis, treat-ment, cure, and hopefully prevention. In the light of existing cancer calamity,government funding must give priority to eradicating this deadly children’smalignancy over military superiority.
I am thankful to Dr. Dawood Farahi and Dr. Kristie Reilly for recognizingthe importance of medical research and publishing at an institution of highereducation.
Union, New Jersey M.A. HayatMay, 2011
Contents
Part I Introduction
1 Introduction . . . . . . . . . . . . . . . . . . . . . . . . . . . . 3M.A. Hayat
Part II Diagnosis and Biomarkers
2 Pediatric CNS Neuroblastoma: Magnetic ResonanceImaging and Spectroscopy . . . . . . . . . . . . . . . . . . . . 11Ravikanth Balaji
3 Pediatric Neuroblastoma-Associated Opsoclonus-Myoclonus-Ataxia Syndrome: Early Diagnosis . . . . . . . . 21Elisa De Grandis
4 Neuroblastoma Mouse Model . . . . . . . . . . . . . . . . . . 31Hiroshi Iwakura and Takashi Akamizu
5 Orbital Metastasis in Neuroblastoma Patients . . . . . . . . . 39Stephen J. Smith and Brian G. Mohney
6 Pediatric Neuroblastoma: Molecular Detection ofMinimal Residual Disease . . . . . . . . . . . . . . . . . . . . 47Janine Stutterheim, Godelieve A.M. Tytgat, and C. Ellenvan der Schoot
7 A Comprehensive Tissue Microarray-Based FISHScreen of ALK Gene in Neuroblastomas . . . . . . . . . . . . 65Marta Piqueras, Manish Mani Subramaniam, ArnaudBerthier, Samuel Navarro, and Rosa Noguera
Part III Therapy
8 Neuroblastoma: Triptolide Therapy . . . . . . . . . . . . . . 79Mara B. Antonoff and Ashok K. Saluja
9 Neuroblastoma: Ornithine Decarboxylase andPolyamines are Novel Targets for Therapeutic Intervention . 91André S. Bachmann, Dirk Geerts, and Giselle L. Saulnier Sholler
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10 Neuroblastoma: Antibody-Based Immunotherapy . . . . . . 105Rossen M. Donev, Timothy R. Hughes, and B. Paul Morgan
11 Targeting Multidrug Resistance in Neuroblastoma . . . . . . 115Jamie I. Fletcher, Michelle Haber, Michelle J.Henderson, and Murray D. Norris
12 Neuroblastoma: Perspectives for the Use of IL-21 inImmunotherapy . . . . . . . . . . . . . . . . . . . . . . . . . . 125Michela Croce, Maria Valeria Corrias, and Silvano Ferrini
13 Neuroblastoma: Role of Hypoxia and HypoxiaInducible Factors in Tumor Progression . . . . . . . . . . . . 137Erik Fredlund, Alexander Pietras, Annika Jögi, and Sven Påhlman
14 Neuroblastoma: Role of GATA Transcription Factors . . . . . 151Victoria Hoene and Christof Dame
15 Neuroblastoma: Role of MYCN/Bmi1 Pathwayin Neuroblastoma . . . . . . . . . . . . . . . . . . . . . . . . . 161Takehiko Kamijo
16 Neuroblastoma: Role of Clusterin as a TumorSuppressor Gene . . . . . . . . . . . . . . . . . . . . . . . . . 169Arturo Sala and Korn-Anong Chaiwatanasirikul
17 Refractory Neuroblastoma Cells: Statins Target ATPBinding Cassette-Transporters . . . . . . . . . . . . . . . . . 177Evelyn Sieczkowski, Bihter Atil, and Martin Hohenegger
18 Neuroblastoma: Dosimetry for MIBG Therapies . . . . . . . 185Ferdinand Sudbrock and Matthias Schmidt
19 Advanced Neuroblastoma: Role of ALK Mutations . . . . . . 199Junko Takita and Seishi Ogawa
20 Pediatric Neuroblastoma: Treatment with OralIrinotecan and Temozolomide . . . . . . . . . . . . . . . . . . 209Lars Wagner
Part IV Prognosis
21 Genomic Profiling of Neuroblastoma Tumors –Prognostic Impact of Genomic Aberrations . . . . . . . . . . 217Helena Carén
22 Neuroblastoma Patients: Plasma Growth FactorMidkine as a Prognostic Growth Factor . . . . . . . . . . . . 223Satoshi Kishida, Shinya Ikematsu, Yoshifumi Takei,and Kenji Kadomatsu
23 Pediatric Neuroblastoma: Role of TGFBI (Keratoepithelin) . 229Jürgen Becker
Contents xiii
24 Role of Bone Marrow Infiltration Detected bySensitive Methods in Patients with Localized Neuroblastoma 237Maria Valeria Corrias
Index . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 247
Contributors
Takashi Akamizu Ghrelin Research Project, Translation Research Center,Kyoto University Hospital, Kyoto 606-8507, Japan
Mara B. Antonoff Department of Surgery, University of Minneapolis,Minneapolis, MN 55455, USA, [email protected]
Bihter Atil Institute of Pharmacology, Medical University of Vienna,A-1090 Vienna, Austria
André S. Bachmann Department of Pharmaceutical Sciences, College ofPharmacy, University of Hawaii at Hilo, Hilo, HI 96720, USA; CancerResearch Center of Hawaii, University of Hawaii at Manoa, Honolulu, HI96813, USA, [email protected]; [email protected]
Ravikanth Balaji Regional Cancer Centre, Medical College PO,Trivandrum, Kerala 695011, India, [email protected]
Jürgen Becker Abteilung Anatomie und Zellbiologie, Zentrum Anatomie,Universitatsmedizin Gottingen, D-37075 Gottingen, Germany,[email protected]
Arnaud Berthier Laboratory of Molecular Biology of Cancer, Centro deInvestigación Príncipe Felipe, Valencia, Spain
Helena Carén UCL Cancer Institute, University College London, London,WC1E 6BT, United Kingdom, [email protected]
Korn-Anong Chaiwatanasirikul Molecular Haematology and CancerBiology Unit, Institute of Child Health, London WC1N 1EH, UK
Maria Valeria Corrias Laboratory of Oncology, Gaslini Institute, 16147Genoa, Italy, [email protected]
Michela Croce Laboratory of Immunological Therapy, Istituto Nazionaleper la Ricerca sul Cancro, Genoa, Italy, [email protected]
Christof Dame Department of Neonatology, Charité – UniversitätsmedizinBerlin, D-13353 Berlin, Germany, [email protected]
Elisa De Grandis Department of Child Neuropsychiatry, G. GasliniInstitute, University of Genoa, Genoa, Italy, [email protected]
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Rossen M. Donev Laboratory of Molecular Psychiatry andPsychopharmacology, Institute of Life Science, School of Medicine,Swansea University, Swansea SA2 8PP, UK, [email protected]
Silvano Ferrini Laboratory of Immunological Therapy, Istituto Nazionaleper la Ricerca sul Cancro, Genoa, Italy, [email protected]
Jamie I. Fletcher Children’s Cancer Institute Australia for MedicalResearch, Lowy Cancer Research Centre, UNSW, Sydney, NSW 2052,Australia, [email protected]
Erik Fredlund Department of Laboratory Medicine, Center for MolecularPathology, CREATE Health, Lund University, Malmö, Sweden
Dirk Geerts Department of Pediatric Oncology/Hematology, SophiaChildren’s Hospital, Erasmus University Medical Center, 3015 GERotterdam, The Netherlands
Michelle Haber Children’s Cancer Institute Australia for MedicalResearch, Lowy Cancer Research Centre, UNSW, Sydney, NSW 2052,Australia
M.A. Hayat Department of Biological Sciences, Kean University, Union,NJ 07083, USA, [email protected]
Michelle J. Henderson Children’s Cancer Institute Australia for MedicalResearch, Lowy Cancer Research Centre, UNSW, Sydney, NSW 2052,Australia
Victoria Hoene Department of Neonatology, Charité – UniversitätsmedizinBerlin, D-13353 Berlin, Germany
Martin Hohenegger Institute of Pharmacology, Medical University ofVienna, A-1090 Vienna, Austria, [email protected]
Timothy R. Hughes Department of Infection, Immunity and Biochemistry,School of Medicine, Cardiff University, Cardiff, CF14 4XN, UK
Shinya Ikematsu Department of Bioresources Engineering, OkinawaNational College of Technology, Okinawa 905-2192, Japan
Hiroshi Iwakura Ghrelin Research Project, Translation Research Center,Kyoto University Hospital, Kyoto 606-8507, Japan,[email protected]
Annika Jögi Department of Laboratory Medicine, Center for MolecularPathology, CREATE Health, Lund University, Malmö, Sweden
Kenji Kadomatsu Department of Biochemistry, Nagoya UniversityGraduate School of Medicine, Nagoya 466-8550, Japan
Takehiko Kamijo Division of Biochemistry and Molecular Carcinogenesis,Chiba Cancer Center, Research Institute, Chiba, Japan, [email protected]
Satoshi Kishida Department of Biochemistry, Nagoya University GraduateSchool of Medicine, Nagoya 466-8550, Japan, [email protected]
Contributors xvii
Brian G. Mohney Department of Ophthalmology, Mayo Clinic, Rochester,MN 55905, USA, [email protected]
B. Paul Morgan Department of Infection, Immunity and Biochemistry,School of Medicine, Cardiff University, Cardiff, CF14 4XN, UK
Samuel Navarro Department of Pathology, Medical School, University ofValencia, 46010 Valencia, Spain
Rosa Noguera Department of Pathology, Medical School, University ofValencia, 46010 Valencia, Spain, [email protected]
Murray D. Norris Children’s Cancer Institute Australia for MedicalResearch, Lowy Cancer Research Centre, UNSW, Sydney, NSW 2052,Australia, [email protected]
Seishi Ogawa Cancer Genomics Project, Graduate School of Medicine,University of Tokyo, Tokyo 113-8655, Japan, [email protected]
Sven Påhlman Department of Laboratory Medicine, Center for MolecularPathology, CREATE Health, Lund University, Malmö, Sweden,[email protected]
Alexander Pietras Department of Laboratory Medicine, Center forMolecular Pathology, CREATE Health, Lund University, Malmö, Sweden
Marta Piqueras Department of Pathology, Medical School, University ofValencia, 46010 Valencia, Spain, [email protected]
Arturo Sala Molecular Haematology and Cancer Biology Unit, Institute ofChild Health, London WC1N 1EH, UK, [email protected]
Ashok K. Saluja Department of Surgery, University of Minneapolis,Minneapolis, MN 55455, USA
Matthias Schmidt Department of Nuclear Medicine, University Hospitalof Cologne, 50937 Cologne, Germany
Giselle L. Saulnier Sholler Van Andel Research Institute and Helen DeVosChildren’s Hospital, Grand Rapids, Michigan 49503, USA
Evelyn Sieczkowski Institute of Pharmacology, Medical University ofVienna, A-1090 Vienna, Austria, [email protected]
Stephen J. Smith Mayo Medical School, Mayo Clinic, Rochester, MN55905, USA, [email protected]
Janine Stutterheim Department of Immunohematology, Sanquin-AMCLandsteiner Laboratory, Amsterdam, The Netherlands; Department ofPediatric Oncology, Emma Children’s Hospital, Academic Medical Center,Amsterdam, The Netherlands, [email protected]
Manish Mani Subramaniam Department of Pathology, Medical School,University of Valencia, 46010 Valencia, Spain
xviii Contributors
Ferdinand Sudbrock Department of Nuclear Medicine, UniversityHospital of Cologne, 50937 Cologne, Germany,[email protected]
Yoshifumi Takei Department of Biochemistry, Nagoya UniversityGraduate School of Medicine, Nagoya 466-8550, Japan
Junko Takita Department of Cell Therapy and Transplantation Medicineand Pediatrics, Graduate School of Medicine, University of Tokyo, Tokyo113-8655, Japan, [email protected]
Godelieve A.M. Tytgat Department of Pediatric Oncology, EmmaChildren’s Hospital, Academic Medical Center, Amsterdam, TheNetherlands
C. Ellen van der Schoot Department of Immunohematology,Sanquin-AMC Landsteiner Laboratory, Amsterdam, The Netherlands,[email protected]
Lars Wagner Division of Pediatric Hematology/Oncology, CincinnaticChildren’s Hospital Medical Center, University of Cincinnati College ofMedicine, Cincinnati, OH 45229, USA, [email protected]