Chromosomal Translocations and Genome Rearrangements in Cancer
Janet D. Rowley Michelle M. Le Beau Terence H. Rabbitts Editors Chromosomal Translocations and Genome Rearrangements in Cancer
Editors Janet D. Rowley (deceased) Department of Medicine Section of Hematology/Oncology University of Chicago Chicago, IL, USA Michelle M. Le Beau Section of Hematology/Oncology Comprehensive Cancer Center University of Chicago Chicago, IL, USA Terence H. Rabbitts Weatherall Institute of Molecular Medicine MRC Molecular Haematology Unit University of Oxford Oxford, UK ISBN 978-3-319-19982-5 DOI 10.1007/978-3-319-19983-2 ISBN 978-3-319-19983-2 (ebook) Library of Congress Control Number: 2015951979 Springer Cham Heidelberg New York Dordrecht London Springer International Publishing Switzerland 2015 This work is subject to copyright. All rights are reserved by the Publisher, whether the whole or part of the material is concerned, specifically the rights of translation, reprinting, reuse of illustrations, recitation, broadcasting, reproduction on microfilms or in any other physical way, and transmission or information storage and retrieval, electronic adaptation, computer software, or by similar or dissimilar methodology now known or hereafter developed. The use of general descriptive names, registered names, trademarks, service marks, etc. in this publication does not imply, even in the absence of a specific statement, that such names are exempt from the relevant protective laws and regulations and therefore free for general use. The publisher, the authors and the editors are safe to assume that the advice and information in this book are believed to be true and accurate at the date of publication. Neither the publisher nor the authors or the editors give a warranty, express or implied, with respect to the material contained herein or for any errors or omissions that may have been made. Printed on acid-free paper Springer International Publishing AG Switzerland is part of Springer Science+Business Media (www. springer.com)
We hope that this volume will inform academics and clinical scientists to help their studies aimed to develop better cancer diagnostics and treatments. We are indebted to Ms. Annabel Gordon for her tireless and diligent work into the production of this volume. Without this crucial input, the book would never have been accomplished.
Contents Part I Introduction 1 A Short History of Chromosome Rearrangements and Gene Fusions in Cancer... 3 Felix Mitelman Part II General 2 Molecular Genetics Methods in Discovery of Chromosome Structure... 15 Donna G. Albertson 3 Mechanisms of Recurrent Chromosomal Translocations... 27 Richard L. Frock, Jiazhi Hu, and Frederick W. Alt 4 Chromosome Translocations, Cancer Initiation and Clonal Evolution... 53 Mel Greaves and Anthony M. Ford 5 Common Chromosomal Fragile Sites and Cancer... 73 Yanwen Jiang, Isabelle Lucas, and Michelle M. Le Beau 6 Copy Number Changes in Carcinomas: Applications... 95 Henry Wood and Pamela Rabbitts Part III Leukaemia/Lymphoma 7 Chronic Myeloid Leukaemia... 107 Debora A. Casolari and Junia V. Melo 8 Immunoglobulin and MYC Rearrangements inmultiple Myeloma Pathogenesis... 139 P. Leif Bergsagel and W. Michael Kuehl vii
viii Contents 9 Chromosomal Translocations in B Cell Lymphomas... 157 Marco Fangazio, Laura Pasqualucci, and Riccardo Dalla-Favera 10 Chromosomal Translocations and Gene Rearrangements in Acute Lymphoblastic Leukaemia... 189 Marc R. Mansour and A. Thomas Look 11 Cellular and Molecular Basis of KMT2A/MLL Leukaemias: From Transformation Mechanisms to Novel Therapeutic Strategies... 223 Bernd B. Zeisig and Chi Wai Eric So 12 Acute Promyelocytic Leukaemia: From a Specific Translocation to Cure by Targeted Therapies... 251 Kim L. Rice and Hugues de Thé 13 Chromosome Abnormalities in Acute Myeloid Leukaemia and Their Clinical Importance... 275 Krzysztof Mrózek and Clara D. Bloomfield Part IV Sarcomas 14 Fusion Oncogenes of Sarcomas... 321 Pierre Åman 15 Translocations in Ewing Sarcoma... 333 Jason M. Tanner and Stephen L. Lessnick Part V Epithelial Tumours 16 RET and Thyroid Carcinomas... 357 Maria Domenica Castellone and Giancarlo Vecchio 17 Gene Fusions in Prostate Cancer... 381 Andrew S. McDaniel and Scott A. Tomlins 18 Chromosomal Translocations in Lung Cancer... 403 Hiroyuki Mano 19 Colon and Ovarian Translocations... 417 Paul T. Spellman Part VI Other Aspects 20 Pre-clinical Modelling of Chromosomal Translocations and Inversions... 429 Katia Ruggero and Terence H. Rabbitts
Contents ix 21 Protein Complex Hierarchy and Translocation Gene Products... 447 Jacqueline M. Matthews 22 Aberrant Transcriptional Programming in Blood Cancers... 467 Constanze Bonifer, Peter N. Cockerill, and Anetta Ptasinska Index... 485