Molecular Biology and Pathology of Paediatric Cancer
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Molecular Biology and Pathology of Paediatric Cancer CATHERINE J. CULLINANE, et al. OXFORD UNIVERSITY PRESS Cullin-fm.qxd 9/27/03 9:44 AM Page i OXFORD MEDICAL PUBLICATIONS Molecular Biology and Pathology of Paediatric Cancer Cullin-fm.qxd 9/27/03 5:36 PM Page ii Oxford University Press makes no representation, express or implied, that the drug dosages in this book are correct. Readers must therefore always check the product information and clinical procedures with the most up to date published product information and data sheets provided by the manufacturers and the most recent codes of conduct and safety regulations. The authors and the publishers do not accept responsibility or legal liability for any errors in the text or for the misuse or misapplication of material in this work. Cullin-fm.qxd 9/27/03 9:44 AM Page iii Molecular Biology and Pathology of Paediatric Cancer Edited by CATHERINE J. CULLINANE Department of Pathology St James’s University Hospital Leeds, UK SUSAN A. BURCHILL Candlelighter’s Children’s Cancer Research Laboratory Cancer Research UK Clinical Centre St James’s University Hospital Leeds, UK JEREMY A. SQUIRE Ontario Cancer Institute Division of Cellular and Molecular Biology University of Toronto, Canada JOHN J. O’LEARY Department of Pathology Coombe Women’s Hospital, St. James’s Hospital, and Trinity College Dublin, Ireland IAN J. LEWIS Yorkshire Regional Centre for Paediatric Oncology and Haematology St James’s University Hospital Leeds, UK 1 Cullin-fm.qxd 9/27/03 9:44 AM Page iv 1 Great Clarendon Street, Oxford OX2 6DP Oxford University Press is a department of the University of Oxford. It furthers the University’s objective of excellence in research, scholarship, and education by publishing worldwide in Oxford New York Auckland Bangkok Buenos Aires Cape Town Chennai Dar es Salaam Delhi Hong Kong Istanbul Karachi Kolkata Kuala Lumpur Madrid Melbourne Mexico City Mumbai Nairobi Sa˜o Paulo Shanghai Taipei Tokyo Toronto Oxford is a registered trade mark of Oxford University Press in the UK and in certain other countries Published in the United States by Oxford University Press Inc., New York © Oxford University Press, 2003 The moral rights of the authors have been asserted Database right Oxford University Press (maker) First published 2003 All rights reserved. No part of this publication may be reproduced, stored in a retrieval system, or transmitted, in any form or by any means, without the prior permission in writing of Oxford University Press, or as expressly permitted by law, or under terms agreed with the appropriate reprographics rights organization. Enquiries concerning reproduction outside the scope of the above should be sent to the Rights Department, Oxford University Press, at the address above You must not circulate this book in any other binding or cover and you must impose this same condition on any acquirer A catalogue record for this title is available from the British Library Library of Congress Cataloging in Publication Data (Data available) ISBN 0 19 263079 2 (Hbk) 10987654321 Typeset by Newgen Imaging Systems (P) Ltd., Chennai, India Printed in Great Britain on acid-free paper by CPI Bath, Bath Cullin-fm.qxd 9/27/03 9:44 AM Page v For children everywhere with cancer Cullin-fm.qxd 9/27/03 9:44 AM Page vi This page intentionally left blank Cullin-fm.qxd 9/27/03 9:44 AM Page vii Foreword The management of children with cancer has become a paradigm of cancer care for patients of all ages. The mul- tidisciplinary team approach involving oncologists, surgeons, radiologists, clinical scientists, nurses, and other spe- cialists operates on a basis of mutual respect and understanding for the roles of all disciplines. Such understanding develops through close clinical liaison but is much facilitated by the availability of readily accessible information sources which educate and guide practitioners. This excellent book fulfils that purpose to the fullest extent. In this age of electronic media and the Internet one can be deluged with information, much of it unhelpful or misleading. In order to see the big picture, publications such as this are vital. The care of a child with cancer requires a comprehensive understanding of the biology of the disease, the diagnostic methodologies, and the way in which these impact on treatment decisions. The editors and authors of this book are to be highly commended for the quality and clarity of the text. This book is relevant not only to clinical scientists and pathologists but also to oncologists and other clinicians. It represents a one stop, com- prehensive source of information and can only broaden the horizons of all those who read it. The true beneficiar- ies of this book will be children with cancer, for with accessible information sources such as this the quality of care can only be improved. Allan G. Howatson Consultant Paediatric Pathologist Royal Hospital for Sick Children Glasgow Cullin-fm.qxd 9/27/03 9:44 AM Page vi This page intentionally left blank Cullin-fm.qxd 9/27/03 9:44 AM Page ix Preface Are you a clinician or scientist working in paediatric oncology who wishes to understand current developments in molecular pathology as applied to your field? Then this is the book for you! It is a broad ranging review focusing on the impact of molecular and cytogenetic techniques on understanding of the aetiology, clinical behaviour, diagnosis, and management of paediatric cancer. The first section outlines the laboratory handling of tissue samples, theory, and methodology of cytogenetic and molecular techniques and discusses predisposition syndromes. The second section highlights the application of cytogenetic and molecular methods in diagnosis and treatment of the major paediatric cancers. C.J. Cullinane S.A. Burchill J.A. Squire J.J.O’Leary I.J. Lewis Cullin-fm.qxd 9/27/03 9:44 AM Page vi This page intentionally left blank Cullin-fm.qxd 9/27/03 9:44 AM Page xi Contents List of contributors xi List of abbreviations xiii An introduction to children’s cancer and the patient pathway 1 Ian J. Lewis Section 1 Methods and Clinical Application 1 Cells, tissues, and the diagnostic laboratory 15 Catherine J. Cullinane, Susan A. Burchill, John J. O’Leary 2 Methods of genetic analysis applied to pediatric cancer 37 Jane Bayani, Maria Zielenska, Jeremy A. Squire 3 Blots, dots, amplification, and sequencing 56 John J. O’Leary, Cara Martin, Orla Sheils 4 Familial and predisposition syndromes 74 Eamonn G. Sheridan, C. Geoffrey Woods Section 2 Childhood Cancers 5 Leukemia 95 SheilaWeitzman, Jeremy A. Squire 6 Lymphoma 115 Mary V. Gresik 7 Tumors of the central nervous system and eye 136 Venita Jay, Jeremy A. Squire, Maria Zielenska 8 Neuroblastoma 155 Sadick Variend, Susan A. Burchill 9 Primitive neuroectodermal tumours 171 Catherine J. Cullinane, Susan A. Burchill 10 Rhabdomyosarcoma 186 Ivo Leuschner 11 Malignant soft tissue tumors of childhood 199 J. Robert Thomas, David M. Parham 12 Pediatric renal neoplasms 217 Pedram Argani, Elizabeth J. Perlman 13 Bone tumors (excluding Ewing’s sarcoma) 238 Walter C. Bell, Gene P. Siegal Cullin-fm.qxd 9/27/03 9:44 AM Page xii xii Contents 14 Germ cell tumours 247 Elizabeth S. Gray 15 Liver tumors 264 Milton J. Finegold 16 Carcinoma 299 Catherine J. Cullinane, John J. O’Leary Glossary of molecular terms 319 Index 323 Cullin-fm.qxd 9/27/03 9:44 AM Page xiii Contributors Argani, Pedram, MD Paediatric Pathologist, The National Wilms Tumor Study Group Pathology Center, Department of Pathology, The Johns Hopkins Medical Institutions, 600 North Wolfe Street, Baltimore, Maryland USA 21287 Bayani, Jane, BSc University Health Network, Ontario Cancer Institute and the Departments of Laboratory Medicine and Pathobiology, and Medical Biophysics University of Toronto, Ontario, Canada Bell, Walter C., MD Division of Anatomic Pathology, Department of Pathology, The University of Alabama at Birmingham, 506 Kracke Building, 619 south 19th Street, Birmingham, Alabama 35233-6823, USA Burchill, Susan A., PhD Senior Scientist, Candlelighter’s Children’s Cancer Research Laboratory, Cancer Research UK Clinical Centre, St James’s University Hospital, Leeds LS9 7TF, United Kingdom Cullinane, Catherine J., MB, FRCPath Paediatric Pathologist, Department of Pathology, St James’s University Hospital, Leeds LS9 7TF, United Kingdom Finegold, Milton J., MD Professor of Pathology and Paediatrics, Department of Pathology, Texas Children’s Hospital, 6621 Fannin Street, MC 1-2261, Houston, Texas 77030-2399, USA Gresik, Mary V. MD Associate Professor of Pathology, Baylor College of Medicine, Houston, Texas Department of Pathology, Texas Children’s Hospital, 6621 Fannin Street, MC 1-2261, Houston, Texas 77030- 2399, USA Gray, Elizabeth S. MB, FRCPath Paediatric Pathologist, Department of Pathology, University Medical Buildings, University of Aberdeen, Foresterhill, Aberdeen AB25, 2ZD, Scotland Jay, Venita, MD, FRCPC Associate Professor, Departments of Laboratory Medicine and Pathobiology and Ophthalmololgy, The University of Toronto Neuropathologist and ophthalmic pathologist, Department of Pathology, The Hospital for Sick Children and Women’s College Hospital, 555 University Avenue, Toronto M5G 1X8, Ontario, Canada Leuschner, Ivo, MD, PhD Pathologist, Institut für Paidopathologie, Universitätsklinikum Kiel, Michaelisstrasse 11, 24105 Kiel, Germany Lewis, Ian J., MD Paediatric Oncologist, Yorkshire Regional Centre for Paediatric Oncology and Haematology, St James’s University Hospital, Beckett Street, Leeds LS9 7TF, United Kingdom Martin, Cara, MSc Pathology