Molecular Surgical Pathology

442 Pages·2013·14.169 MB·English

by  Fred T. Bosman M.D. (auth.), Liang Cheng, John N. Eble (eds.)

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
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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