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Molecular Surgical Pathology PDF

442 Pages·2013·14.169 MB·English
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Molecular Surgical Pathology Liang Cheng (cid:129) John N. Eble Editors Molecular Surgical Pathology Editors Liang Cheng John N. Eble Department of Pathology and Laboratory Department of Pathology and Laboratory Medicine Medicine Indiana University School of Medicine Indiana University School of Medicine Indianapolis Indianapolis IN , USA IN, USA ISBN 978-1-4614-4899-0 ISBN 978-1-4614-4900-3 (eBook) DOI 10.1007/978-1-4614-4900-3 Springer New York Heidelberg Dordrecht London Library of Congress Control Number: 2012951054 © Springer Science+Business Media New York 2013 This work is subject to copyright. All rights are reserved by the Publisher, whether the whole or part of the material is concerned, speci fi cally the rights of translation, reprinting, reuse of illustrations, recitation, broadcasting, reproduction on micro fi lms 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. Exempted from this legal reservation are brief excerpts in connection with reviews or scholarly analysis or material supplied speci fi cally for the purpose of being entered and executed on a computer system, for exclusive use by the purchaser of the work. Duplication of this publication or parts thereof is permitted only under the provisions of the Copyright Law of the Publisher’s location, in its current version, and permission for use must always be obtained from Springer. Permissions for use may be obtained through RightsLink at the Copyright Clearance Center. Violations are liable to prosecution under the respective Copyright Law. The use of general descriptive names, registered names, trademarks, service marks, etc. in this publication does not imply, even in the absence of a speci fi c statement, that such names are exempt from the relevant protective laws and regulations and therefore free for general use. While the advice and information in this book are believed to be true and accurate at the date of publication, neither the authors nor the editors nor the publisher can accept any legal responsibility for any errors or omissions that may be made. The publisher makes no warranty, express or implied, with respect to the material contained herein. Printed on acid-free paper Springer is part of Springer Science+Business Media (www.springer.com) Preface to Molecular Surgical Pathology, First Edition (Springer, NY) Molecular pathology is a driving force towards personalized medicine and is already an integral part of current surgical pathology practice. High expecta- tions of excellence in surgical pathology exist in this era of genomic medicine as speci fi c genetic alterations become amenable to tailored personalized ther- apy. The role of the surgical pathologist involves more than just providing an accurate diagnosis, but also involves developing strategies for effective genomic characterization and integrating various ancillary test results neces- sary for disease prognosis and clinical management. Fundamental knowledge and understanding of molecular pathogenesis and pathways of human dis- eases, as well as molecular diagnostic tools, are essential for the daily prac- tice of surgical pathology. The goal of this new textbook is to provide a concise review of recent advances in molecular pathology for each organ system. This book is not intended to replace comprehensive sources of existing pathology textbooks that have heavily emphasized morphologic criteria. This is intended to be a “ fi rst knowledge base” in a rapidly evolving fi eld, organized in a user friendly outline format. The specialty of surgical pathology has grown enormously as a result of recent breakthroughs in molecular pathology such as testing for predictive cancer biomarkers, decoding of cancer molecular pro fi les, and next genera- tion sequencing for entire genomes. In this volume, we will discuss how the advent of genomic medicine, disruptive technological innovations, and tar- geted cancer therapies have impacted our understanding of the disease pro- cess, created paradigm shifts in cancer treatment, and revolutionized our practice of surgical pathology in an unprecedented manner. The text is authored by leading international experts. Each chapter is organ-based and covers important aspects of molecular pathology with emphasis on their impact to daily surgical pathology practice. The topics presented herein con- stitute fundamental and core basic knowledge required for surgical pathologists. The book consists of 17 chapters covering the molecular pathology of tumors from major organ systems, including colorectal cancer, pancreatic cancer, liver tumors, gallbladder cancer, lung cancer, breast cancer, ovarian cancer, kidney tumors, prostate cancer, urinary bladder cancer, testicular can- cer, cutaneous melanoma and nonmelanoma skin cancer, head and neck cancer, soft tissue and bone tumors, brain tumors, and endocrine cancer. v vi Preface to Molecular Surgical Pathology, First Edition (Springer, NY) A detailed table of contents is provided at the beginning of each chapter for quick reference. This book focuses on the practical utility of molecular tech- niques and on molecular biomarkers for the practicing surgical pathologist. The emphasis is on the impact of molecular pathology for tumor classi fi cation, diagnosis and differential diagnosis, as well as its implications for patient management and personalized care. Numerous tables, diagrams, and color illustrations are included. Given space limitations, basic molecular biology techniques and principles of molecular genetics are not covered in this text. Readers are encouraged to consult other textbooks focusing on basic con- cepts and principles of molecular biology. Selected references are provided in the Suggested Reading section for each chapter. Molecular Surgical Pathology is designed for use by pathologists in train- ing and by surgical pathologists in their daily practice. There is increasing emphasis on knowledge of molecular pathology by the American Board of Pathology. This book will serve as a practical, readily accessible source of information for pathologists who are preparing for Board and in-service examinations. It is our hope that this book will also be a unique and invalu- able resource for medical oncologists, treating physicians, other medical pro- fessionals, and basic research scientists who have an interest in the molecular pathology of human cancer. We are greatly indebted to all individuals who have been involved in the preparation of this book. Our profound gratitude goes to the contributing authors who have shared their knowledge and experience with our readers and with us. We express our appreciation to Ms. Tracey Bender for her out- standing and ebullient editorial assistance. We also thank the dedicated and talented staff at Springer, especially Richard Hruska, Maureen Alexander, Michael Doblados, Joseph Quatela, and supportive colleagues who have given invaluable support throughout the development and production of this book. Indianapolis, IN, USA Liang Cheng, MD John N. Eble, MD Contents 1 Molecular Pathology of Colorectal Cancer .............................. 1 Fred T. Bosman 2 Molecular Pathology of Pancreatic Cancer .............................. 17 Laura D. Wood, N. Volkan Adsay, and Ralph H. Hruban 3 Molecular Pathology of Liver Tumors ...................................... 43 Thomas Longerich, Kai Breuhahn, and Peter Schirmacher 4 Molecular Pathology of Gallbladder Cancer ........................... 65 Juan Carlos Roa and N. Volkan Adsay 5 Molecular Pathology of Lung Cancers ..................................... 83 Lynette M. Sholl and Neal I. Lindeman 6 Molecular Pathology of Breast Cancer ..................................... 95 Alejandro Ariel Gru and Donald Craig Allred 7 Molecular Pathology of Ovarian Cancer .................................. 129 Kruti P. Maniar, Ie-Ming Shih, and Robert J. Kurman 8 Molecular Pathology of Endometrial Cancer ........................... 151 Xavier Matias-Guiu and Jaime Prat 9 Molecular Pathology of Kidney Tumors ................................... 171 Sean R. Williamson, John N. Eble, and Liang Cheng 10 Molecular Pathology of Prostate Cancer .................................. 213 Bora Gurel, Riley E. Alexander, Liang Cheng, and Angelo M. De Marzo 11 Molecular Pathology of Urinary Bladder Cancer .................... 229 George J. Netto and Liang Cheng 12 Molecular Pathology of Testicular Cancer ............................... 255 Katharina Biermann and Leendert H.J. Looijenga 13 Molecular Pathology of Cutaneous Melanoma and Nonmelanoma Skin Cancer ................................................ 269 Andrea Saggini and Boris Bastian vii viii Contents 14 Molecular Pathology of Head and Neck Cancer ...................... 307 Audrey P. Calzada, Maie A. St. John, Elliot Abemayor, and David T.W. Wong 15 Molecular Pathology of Soft Tissue and Bone Tumors ............ 325 Neal I. Lindeman and Paola Dal Cin 16 Molecular Pathology of the Central Nervous System .............. 357 Brent T. Harris and Eyas M. Hattab 17 Molecular Pathology of Endocrine Cancer .............................. 407 Ricardo V. Lloyd, Long Jin, Darya Buehler, Heather Hardin, and Weihua Shan Index ..................................................................................................... 425 Contributors Elliot Abemayor , MD, PhD Department of Head and Neck Surgery , CHS David Geffen School of Medicine at UCLA , Los Angeles , CA , USA N. Volkan Adsay , MD Department of Pathology and Laboratory Medicine , Emory University , Atlanta , GA , USA Riley E. Alexander , MD Department of Pathology and Laboratory Medicine , Indiana University School of Medicine , Indianapolis , IN , USA Donald Craig Allred , MD, FCAP Department of Pathology and Immunology , Washington University School of Medicine , St. Louis , MO , USA Boris C. Bastian , MD Helen Diller Family Comprehensive Cancer Center, Departments of Pathology and Laboratory Medicine, University of California at San Francisco , San Francisco , CA , USA Katharina Biermann , MD, PhD Department of Pathology , Erasmus MC-University Medical Center Rotterdam , Rotterdam , The Netherlands Fred T. Bosman , MD, PhD University Institute of Pathology, University of Lausanne Medical Center , Lausanne , Switzerland Kai Breuhahn , MD Institute of Pathology, University Hospital, University of Heidelberg , Heidelberg , Germany Darya Buehler , MD Department of Pathology and Laboratory Medicine , University of Wisconsin School of Medicine and Public Health , Madison , WI , USA Audrey P. Calzada , MD Department of Head and Neck Surgery , CHS David Geffen School of Medicine at UCLA , Los Angeles , CA , USA Paola Dal Cin , PhD Department of Pathology , The Center for Advanced Molecular Diagnostics (CAMD), Brigham and Women’s Hospital and Harvard Medical School , Boston , MA , USA Liang Cheng , MD Department of Pathology and Laboratory Medicine , Indiana University School of Medicine , Indianapolis , IN , USA ix

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