The Molecular Basis of Human Cancer PDF
Preview The Molecular Basis of Human Cancer
THE MOLECULAR BASIS OF HUMAN CANCER THE MOLECULAR BASIS OF HUMAN CANCER Edited by B. WILLIAM COLEMAN Department of Pathology and Laboratory Medicine University of North Carolina School of Medicine Chapel Hill, NC and J. GREGORY TSONGALIS Department of Pathology and Laboratory Medicine Hartford Hospital Hartford, CT ~ SPRINGER SCIENCE+BUSINESS ~ MEDIA,LLC © 2002 Springer Science+Business Media New York Originally published by Humana Press Inc. in 2002 For additional copies, pricing for bulk purchases, and/or information about other Humana titles, contact Humana at the above address or at any of the following numbers: Tel.: 973-256-1699; Fax: 973-256-8341; E-mail:[email protected]; Website: http://humanapress.com AII rights reserved. No part ofthis book may be reproduced, stored in a retrieval system, or transmitted in any form or by any means, electronic, mechanical, photocopying, microfilming, recording, Of otherwise without written permis sion from the Publisher. All articles, comments, opinions, conclusions, or recommendations are those of the author( s), and do not necessarily reflect the views of the publisher Cover Illustration: Liver tumor cells in culture (phase contrast, top left); A squamous celliung carcinoma (hematoxylin and eosin stain, bottom middle); A CK18 immunostain of an invasive ductal carcinoma ofthe breast (top right); Agarose gels ofprimary and metastatic lung tumors showing the allelotype for D3S 1744 and D15S822 (bottom left and top middle, respectively); Fluorescence in situ hybridization of the Rb 1 locus on human chromosome 13 (bottom right). Cover figure courtesy of William B. Coleman and Gregory J. Tsongalis. (Thanks to Suzanne Tepper, Julie Howell, Chris Civalier, and Dr. William K. Funkhouser for their contributions to the studies that produced these images.) Cover design by Patricia F. Cleary. Production Editor: Mark J. Breaugh. This publication is printed on acid-free paper.@ ANSI Z39.48-1984 (American National Standards Institute) Permanence of Paper for Printed Library Materials. Photocopy Authorization Policy: Authorization to photocopy items for internal or personal use, or the internal or personal use of specific clients, is granted by Springer Science+Business Media, LLC, provided that the base fee ofUS $10.00 per copy, plus US $00.25 perpage, is paid directly to the Copyright Clearance Center at 222 Rosewood Drive, Danvers, MA 01923. For those organizations that have been granted a photocopy license from the CCC, a separate system of payment has been arranged and is acceptable to Springer Science+Business Media, LLC, The fee code for users ofthe Transactional Reporting Service is: [0-89603-634- 0/02 $1 0.00 + $00.25]. 10 9 8 7 6 5 4 3 2 Library of Congress Cataloging-in-Publication Data The molecular basis of human cancer / edited by William B. Coleman and Gregory J. Tsongalis. p.cm. lncludes bibliographical references and index. ISBN 978-1-61737-107-3 ISBN 978-1-59259-125-1 (eBook) DOI 10.1007/978-1-59259-125-1 1. Carcinogenesis--Molecular aspects. 2. Cancer--Genetic aspects. 3. Mutation (Biology) l. Coleman, William B. Il. Tsongalis, Gregory J. RC268.5 .M6335 2001 616.99'4042--dc21 2001016560 PREFACE The practice of medical oncology is in a period future of the discipline and the potential impact of of significant positive change that owes primarily scientific advances on the practice of medical to advances in the basic science of oncology. In oncology. This book is directed primarily to recent years, developments in molecular biology advanced graduate students and medical students, techniques have substantially increased our ability postdoctoral trainees, and established investigators to detect and characterize genetic defects in human having basic research interests in the molecular cells, resulting in significant increases in our basis of human neoplastic disease. However, it is understanding of the normal molecular mecha also well suited for the non-expert with similar nisms controlling cellular proliferation and differ interests because it provides a broad overview of entiation. The advancement of our comprehension general themes in the molecular biology of cancer. of these basic molecular mechanisms has been par To be sure, our understanding of the many pro alleled by comparable increases in our understand cesses of neoplasia and their molecular basis is far ing of the molecular basis of the processes involved from complete, but few areas of thematic or con in neoplastic transformation and tumorigenesis. ceptual consensus have developed. We have made Information gleaned from studies conducted in an effort to integrate accepted principles with basic molecular research laboratories is being broader theoretic concepts in an attempt to present applied with unprecedented speed to the develop a current and comprehensive view of the molecular ment of new molecular tests for cancer diagnosis basis of human cancer. We hope that The Molecu and prediction of clinical outcome, as well as to the lar Basis of Human Cancer will accomplish its development of new strategies for cancer preven purpose of providing students and researchers who tion and treatment. Basic scientists, clinical scien already possess strong but diverse basic science tists, and physicians have a need for a source of backgrounds with unifying concepts, so as to stimu information on the current state of the art of the late new research aimed at furthering our under molecular biology of human neoplastic diseases. standing of neoplastic disease. In this volume on The Molecular Basis of Human Cancer we attempt to provide such a source of cur William B. Coleman rent information, as well as provide a look to the Gregory J. Tsongalis v DEDICATION The information contained in this book repre dedicated to the cancer survivors and those who sents the culmination of countless small success continue to live with cancer, for their bravery and stories resulting from the ingenuity and hard work obstinacy, for the inspiration that they provide, and of cancer researchers from laboratories around the for reminding us that there is too much work left to country and worldwide. This book is a tribute to be done for us to rest on our accomplishments. the dedication, diligence, and perseverance of indi We would also like to thank the many people vidua.ls who have contributed to advancements in that have played critical roles in our successes. We our understanding of cancer pathogenesis and biol thank our teachers and our students; both have ogy, especially the graduate students, laboratory taught us much. We thank our scientific col technicians, and postdoctoral fellows, whose leagues, past and present, for their camaraderie and efforts are so frequently taken for granted and so support, and our scientific mentors for their often unrecognized. example of research excellence. We thank our par The Molecular Basis of Human Cancer is dedi ents for believing in higher education, for encour cated to the memory of people we have known, agement through the years, and for helping make who taught us through example about optimism, dreams into reality. We thank our brothers and strength, and tenacity in the fight against cancer, sisters, and extended families, for the many years including Samuel Apostola, Bobby G. Bell, Bobbie of love, friendship, and tolerance. We especially Coleman Clark, Jewell T. Coleman, George G. thank our wives, Monty and Nancy, for their Gerding, Evelyn B. Hadden, Effie H. Helms, Joel unqualified love, unselfish support of our endeav C. Herren, Jean G. Herren, Kathleen M. Jackson, ors, understanding of our work ethic, and appre Gloria Morin, John Panu, Alexandria Rucho, Peter ciation for what we do. Lastly, we thank our Rucho, and Ruth E. Trull. In particular, we dedi children for providing an unwavering bright spot cate this book to Dr. Eugene F. Hamer, a compas in our lives, for their unbridled enthusiasm and sionate physician who worked tirelessly helping boundless energy, for giving us a million reasons others all of his life, for demonstrating how much to take an occasional day off from work just to good one person can accomplish through selfless have fun. commitment to his profession. This book is also William B. Coleman Gregory J. Tsongalis Vll CC)NTENTS Preface ......................................................................................................................... v Dedication .................................................................................................................. vii Contributors ................................................................................................................ xi Part I. Introduction 1 Cancer Epidemiology: Incidence and Etiology of Human Neoplasms ............... 3 William B. Coleman and Gregory J. Tsongalis Part II. Essential Concepts in Molecular Biology 2 Essential Concepts and Techniques in Molecular Biology ............................... 25 Sharon Collins Presnell Part III. Molecular Themes in Oncogenesis 3 Cancer Genes ..................................................................................................... 45 John J. Reinartz 4 Positive Mediators of Cell Proliferation in Neoplastic Transformation '" ........ 65 James N. Welch and Susan A. Chrysogelos 5 Inactivation of Negative Growth Regulators During Neoplastic Transformation .................................................................... 81 Kara N. Smolinski and Stephen J. Meltzer Part IV. Mechanisms of Mutation 6 The Role of Genomic Instability in the Development of Human Cancer ....... 115 William B. Coleman and Gregory J. Tsongalis 7 Chromosomes and Chromosomal Instability in Human Cancer ..................... 143 Takashi Shimamoto and Kazuma Ohyashiki 8 Hereditary Cancer ............................................................................................ 159 Bruce M. Boman, Lael Melchert, and Jeremy Z. Fields Part V. Etiology of Human Cancers 9 Evolution of Research in Cancer Etiology ...................................................... 189 Lorenzo Tomatis and James Huff 10 Cellular Responses to Chemical Carcinogens ................................................. 203 Edward L. Loechler, Bryan Henry, and Kwang-Young Seo ix x Contents; 11 Physical Agents in Human Carcinogenesis ..................................................... 223 Cynthia R. Timblin, Yvonne Janssen-Heininger, and Brooke T. Mossman 12 Viral Mechanisms of Human Carcinogenesis ................................................. 233 Felix Hoppe-Seyler and Karin Butz Part VI. Human Tumor Systems 13 The Molecular Biology of Colorectal Carcinoma: Importance of the Wg/Wnt Signal Transduction Pathway .............................. 251 J. Milburn Jessup, Gary Gallick, and Bo Liu 14 Molecular Genetic Alterations in Primary Hepatocellular Neoplasms: Hepatocellular Adenoma, Hepatocellular Carcinoma, and Hepatoblastoma ........................................................................................ 269 Joe W. Grisham 15 The Molecular Basis of Breast Carcinogenesis ............................................... 347 April Charpentier and C. Marcelo Aldaz 16 The Molecular Basis of Prostate Carcinogenesis ............................................ 365 Allen C. Gao and John T. Isaacs 17 The Molecular Basis of Lung Carcinogenesis ................................................. 379 Kwun M. Fong, Yoshitaka Sekido, and John D. Minna 18 The Molecular Basis of Skin Carcinogenesis ................................................... 407 Caterina Missero, Mariarosaria D'Errico, Gian Paolo Dotto, and Eugenia Dogliotti 19 The Molecular Biology of Leukemias .............................................................. 427 Arnold B. Gelb and L. Jeffrey Medeiros 20 Molecular Genetic Applications to the Diagnosis of Non-Hodgkin's Lymphoma ......................................................................... 461 Gregory J. Tsongalis and William N. Rezuke Part VII. Future Directions 21 Cancer Genetic Counseling .............................................................................. 477 Katherine Schneider, Kristen Shannon, Anu Chittenden, Elaine Hiller, and Stephanie Kieffer 22 Molecular Genetic Diagnosis of Inherited Cancer Predisposition .................. 497 Elizabeth M. Petty and Beverly M. Yashar 23 Novel Molecular Targets for Cancer Drug Discovery .................................... 521 John K. Buolamwini 24 Gene Therapy in the Treatment of Human Cancer .......................................... 541 Jesus Gomez-Navarro, Guadalupe Bilbao, and David T. Curiel Index ..................................................................................................................... 567 CC)NTRIBUTORS c. MARCELO ALDAZ • Department JEREMY Z. FIELDS • Center for Healthy Aging, of Carcinogenesis, The University of Texas St. Joseph Hospital, Chicago, IL M.D. Anderson Cancer Center, Smithville, TX KWUN M. FONG· Department of Thoracic GUADALUPE BILBAO • Division of Human Gene Medicine, The Prince Charles Hospital, Therapy, The University of Alabama Brisbane, Australia at Birmingham, Birmingham, AL GARY GALLICK· Department of Tumor Biology, BRUCE M. BOMAN • Division of Medical University of Texas M.D. Anderson Cancer Genetics and Medicine, Jefferson Medical Center, Houston, TX College, Thomas Jefferson University, ALLEN C. GAO· Department of Pathology, Philadelphia, PA University of Pittsburgh Cancer Institute JOHN BUOLAMWINI • Department and Medical Center, Pittsburgh, PA of Pharmaceutical Sciences, College ARNOLD B. GELB· Department of Pathology, of Pharmacy, University of Tennessee Health Deltagen Inc., Menlo Park, CA Sciences Center, Memphis, TN JESUS GOMEZ-NAVARRO· Division of Human KARI~ BuTZ • Angewandte Tumorvirologie, Gene Therapy, The University of Alabama Deutsches Krebsforschungszentrum, at Birmingham, Birmingham, AL Heidelberg, Germany JOE W. GRISHAM· Department of Pathology APRIL CHARPENTIER • Department and Laboratory Medicine, University of North of Carcinogenesis, The University of Texas Carolina School of Medicine, Chapel Hill, NC M.D. Anderson Cancer Center, Smithville, TX BRYAN HENRY· Department of Biology, Boston ANU CHITTENDEN • Department of Population University, Boston, MA Sciences, Dana-Farber Cancer Institute, ELAINE HILLER • Department of Population Boston, MA Sciences, Dana-Farber Cancer Institute, SUSAN A. CHRYSOGELOS • Department Boston, MA of Biochemistry and Molecular Biology, FELIX HOPPE-SEYLER· Angewandte Lombardi Cancer Center, Georgetown Tumorvirologie, Deutsches University, Washington, DC K rebsforschung szentrum, WILLIAM B. COLEMAN· Department of Pathology Heidelberg, Germany and Laboratory Medicine, University of North JAMES HUFF • Chemical Carcinogenesis, National Carolina School of Medicine, Chapel Hill, NC Institute of Environmental Health Sciences, DAVID T. CURIEL· Division of Human Gene National Institutes of Health, Research Therapy, The University of Alabama Triangle Park, NC at Birmingham, Birmingham, AL JOHN T. ISAACS • Department of Urology, James MARL\ROSARIA D'ERRICO· Laboratory Buchanan Brady Urologic Institute, The Johns of Comparative Toxicology and Hopkins Oncology Center, The Johns Hopkins Ecotoxicology, Istituto Superiore di Sanita', University School of Medicine, Baltimore, MD Rome, Italy YVONNE JANSSEN-HEININGER· Department EUGENIA DOGLIOTTI • Laboratory of Pathology, University of Vermont College of Comparative Toxicology and of Medicine, Burlington, VT Ecotoxicology, Istituto Superiore di Sanita', J. MILBURN JESSUP • Section of Surgical Rome, Italy Oncology, University of Texas Health Science GIAN PAOLO DOTTO • Cutaneous Biology Center, San Antonio, TX Research Center, Massachusetts General Hospital, Harvard Medical School, STEPHANIE KIEFFER· Department of Medical Genetics, University of Alberta Hospital, Boston, MA Edmonton, Canada Xl Xli Contributors Bo Lru • Department of Biochemistry WILLIAM N. REZUKE· Department and Molecular Biology, University of Pathology and Laboratory Medicine, of Pittsburgh Cancer Institute and Medical Hartford Hospital, Hartford, CT Center, Pittsburgh, PA KATHERINE SCHNEIDER • Department EDWARD L. LOECHLER· Department of Biology, of Population Sciences, Dana-Farber Cancer Boston University, Boston, MA Institute, Boston, MA L. JEFFREY MEDEIROS • Hemopathology YOSHITAKA SEKIDO • Department of Clinical Department, Division of Pathology and Preventive Medicine, Nagoya University Laboratory Medicine, The University of Texas School of Medicine, Nagoya, Japan M.D. Anderson Cancer Center, Houston, TX K W ANG-YOUNG SEO • Department of Biology, LAEL MELCHERT • Departments of Medical Boston University, Boston, MA Genetics, Medicine, and Microbiology KRISTEN SHANNON • Hematology-Oncology Unit, & Immunology, Jefferson Medical College, Massachusetts General Hospital, Boston, MA Thomas Jefferson University, T AKASHI SHIMAMOTO • First Department Philadelphia, PA of Internal Medicine, Tokyo Medical STEPHEN J. MELTZER· Department of Medicine, University, Tokyo, Japan Division of Gastroenterology, Baltimore KARA N. SMOLINSKI· Department of Medicine, Veteran's Affairs Hospital, The Marlene and Division of Gastroenterology, Baltimore Stewart Greenebaum Cancer Center, Veteran's Affairs Hospital, The Marlene University of Maryland School of Medicine, and Stewart Greenebaum Cancer Center, Baltimore, MD University of Maryland School of Medicine, JOHN D. MINNA· Hamon Center for Therapeutic Baltimore, MD Oncology Research, University of Texas CYNTHIA R. TIMBLIN • Department Southwestern Medical Center, Dallas, TX of Pathology, University of Vermont College CATERINA MISSERO • TIGEM- Telethon Institute of Medicine, Burlington, VT of Genetics and Medicine, Napoli, Italy LORENZO TOMATIS • National Institute BROOKE T. MOSSMAN • Department of Pathology, of Environmental Health Sciences, Research University of Vermont College of Medicine, Triangle Park, NC; International Society Burlington, VT of Doctors for the Environment (ISDE), KAZUMA OHYA SHIKI • First Department Arezzo, Italy. of Internal Medicine, Tokyo Medical GREGORY J. TSONGALIS • Department of Pathology and Laboratory Medicine, University, Tokyo, Japan Hartford Hospital, Hartford, CT ELIZABETH M. PETTY • Division of Molecular Medicine and Genetics, Departments JAMES N. WELCH· Tumor Biology, Department of Oncology, Lombardi Cancer Center, of Internal Medicine and Human Genetics, Georgetown University, Washington, DC University of Michigan School of Medicine, Ann Arbor, MI BEVERLY M. YASHAR • Division of Molecular Medicine and Genetics, Departments SHARON COLLINS PRESNELL· Department of Internal Medicine and Human Genetics, of Pathology and Laboratory Medicine, University of North Carolina School University of Michigan School of Medicine, of Medicine, Chapel Hill, NC Ann Arbor, MI JOHN J. REINARTZ· Department of Pathology, United Hospital, St. Paul, MN I INTRODUCTION
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