Molecular Pathology and Diagnostics of Cancer

599 Pages·2014·7.476 MB·English

by  Jesse Kresak, Yuan (Frank) Shan M.D. (auth.), Domenico Coppola (eds.)

Cancer Growth and Progression
Domenico Coppola E ditor
Molecular
Pathology and
Diagnostics of
Cancer
Molecular Pathology and Diagnostics of Cancer
Cancer Growth and Progression
Volume 16
Founding Editor
Hans E. Kaiser†, D. Sc.
Series Editors
Aejaz Nasir, M.D., M.Phil., FCAP
Senior Medical Advisor,
Molecular Oncologic Pathologist & Surgical Pathology Lead,
Diagnostic & Experimental Pathology & Tailored Therapeutics,
Eli Lilly & Company, Indianapolis, IN, USA
Timothy J. Yeatman, M.D.
President, Gibbs Research Institute Director,
Gibbs Cancer Center, Gibbs Research Institute and Cancer Center,
Spartanburg, SC, USA
For further volumes:
http://www.springer.com/series/5721
Domenico Coppola
Editor
Molecular Pathology
and Diagnostics of Cancer
Editor
Domenico Coppola
Anatomic Pathology
Moffi tt Cancer Center
University of South Florida
Tampa , FL , USA
ISBN 978-94-007-7191-8 ISBN 978-94-007-7192-5 (eBook)
DOI 10.1007/978-94-007-7192-5
Springer Dordrecht Heidelberg New York London
Library of Congress Control Number: 2013951807
© Springer Science+Business Media Dordrecht 2014
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Pref ace
This volume is a comprehensive update on the most common molecular tests
currently available to facilitate the diagnosis of challenging pathologic lesions. This
book includes recent advances in the fi eld of diagnostic techniques including,
among others, fl uorescence in situ hybridization (FISH), microarray, proteomics,
mutational analysis, and others. The book is structured by organ sites (brain, thyroid
and parathyroid, breast, pulmonary, esophago-gastric, hepatocellular, pancreatic,
gastroentero-pancreatic/neuroendocrine, prostate, kidney and bladder, male genital,
gynecologic and ovarian, soft tissue, pediatric, cutaneous, and lymphoid and
myeloid neoplasms). This state-of-the-science reference will provide the practic-
ing pathologists, oncologists, cancer researchers, postgraduates and students of
cancer science with the latest information to help with the diagnosis of diffi cult
lesions. In this era where personalized medicine is becoming a reality, we also
provided, for each chapter, information about prognostic molecular tests able to
predict patient prognosis and/or therapy response. The broad range of topics will
make this text a source of easily accessible information on a variety of tumor types
for practicing pathologists whether in academic or clinical practice.
v

Contents
1 Molecular Pathology and Diagnostics of Gliomas ............................... 1
Jesse Kresak and Yuan (Frank) Shan
2 Molecular Pathology and Diagnostics of Thyroid
and Parathyroid Malignancies ............................................................... 19
Rodney E. Shackelford and Jason Savell
3 Molecular Pathology and Diagnostics of Breast Cancer ..................... 57
William Kong , Ted Richards , Jin Q. Cheng , and Domenico Coppola
4 Molecular Pathology and Diagnostics
of Non-small Cell Lung Carcinoma ....................................................... 75
Brian Quigley , Steve Ducker , and Farah Khalil
5 Molecular Pathology and Diagnostics of Colorectal Cancer .............. 119
Rodney E. Shackelford , Aejaz Nasir , Ardeshir Hakam ,
David Shibata , Timothy Yeatman , and Domenico Coppola
6 Molecular Pathology and Diagnostics
in Esophago-gastric Cancer ................................................................... 177
Rodney E. Shackelford , Maisoun Qassim Abdelbaqi ,
Khaldoon Almhanna , Kenneth Meredith , and Domenico Coppola
7 Molecular-Genetic Testing in Hepatocellular
Carcinoma and Its Premalignant Conditions ....................................... 211
Rodney E. Shackelford , Greg Mayhall , Shankar Japa ,
Aejaz Nasir , Mokenge Malafa , and Domenico Coppola
8 Molecular Diagnostics of Pancreatic Cancer ........................................ 259
Edward J. Richards , William Kong , Mokenge Malafa ,
Jin Q. Cheng , and Domenico Coppola
9 Molecular Pathology and Diagnostics of Prostate Cancer .................. 283
Rodney E. Shackelford , Janese Trimaldi , Philippe E. Spiess ,
Wade J. Sexton , Maisoun Qassim Abdelbaqi , and Shang-Tian Chuang
vii
viii Contents
10 Molecular Diagnosis of Bladder and Kidney Cancer .......................... 329
Marino E. Leon , Dahui Qin , and Debra L. Zynger
11 Molecular-Genetic Testing in Penile,
Scrotal, and Testicular Cancer ............................................................... 341
Nicholas A. Whitling , Sharon M. Hirsh ,
and Rodney E. Shackelford
12 Molecular Pathology and Diagnostics
of Gynecologic Malignancies .................................................................. 365
Rodney E. Shackelford , Masoumeh Ghayouri ,
Domenico Coppola , and Ardeshir Hakam
13 Molecular Pathology of Bone and Soft Tissue Neoplasms
and Potential Targets for Novel Therapy .............................................. 397
Evita B. Henderson-Jackson , Anthony Conley ,
and Marilyn M. Bui
14 Molecular Pathology and Diagnostics
of Pancreatic Endocrine Neoplasms ...................................................... 423
Aejaz Nasir , Jonathan R. Strosberg , Larry K. Kvols ,
Jalil Muhammad , Nelly A. Nasir , Omie Mills ,
and Domenico Coppola
15 Molecular Pathology and Diagnostics of Childhood Tumors. ............. 449
Enid Gilbert-Barness and Kristen Eisbrenner
16 Molecular Pathology and Diagnostics
of Cutaneous Malignancy ....................................................................... 497
Sudeep Gaudi , Patricia M. McNab ,
Timothy W . McCardle , and Jane L. Messina
17 Molecular Diagnostics of Lymphoid Neoplasms .................................. 521
Deniz Peker , Jianguo Tao , and Ling Zhang
18 Molecular Diagnostics of Myeloid Neoplasms ...................................... 557
Xiaohui Zhang and Ling Zhang
Author Index. ................................................................................................... 589
Subject Index ................................................................................................... 593
Chapter 1
Molecular Pathology and Diagnostics
of Gliomas
Jesse Kresak and Yuan (Frank) Shan
Contents
1.1 Introduction ..................................................................................................................... 2
1.2 Genetic Profi ling ............................................................................................................. 3
1.2.1 IDH1/IDH2.......................................................................................................... 3
1.2.2 MGMT Status ...................................................................................................... 5
1.2.3 p53 ....................................................................................................................... 5
1.2.4 1p/19q Deletion ................................................................................................... 6
1.2.5 BRAF Duplication/Fusion................................................................................... 7
1.2.6 MSH6 Mutation................................................................................................... 7
1.3 Proteomics ....................................................................................................................... 7
1.3.1 EGFR ................................................................................................................... 8
1.3.2 PTEN Alterations and 10q LOH ......................................................................... 9
1.3.3 Prohibitin ............................................................................................................. 9
1.3.4 Comprehensive Diagnostics ................................................................................ 10
1.4 miRNA ........................................................................................................................... 10
1.4.1 miR-21 ................................................................................................................. 12
1.4.2 miR-221/222........................................................................................................ 12
1.4.3 miR-181a and miR-181b ..................................................................................... 13
1.4.4 miR-128 ............................................................................................................... 13
1.5 Conclusions ..................................................................................................................... 13
References ............................................................................................................................... 14
J. Kresak
University of South Florida , Tampa , FL , USA
Y. (Frank) Shan , M.D. (*)
Department of Anatomic Pathology , Moffi tt Cancer Center & Research Institute ,
12902 Magnolia Drive , Tampa , FL 33612 , USA
e-mail: Yuan.Shan@moffi tt.org
D. Coppola (ed.), Molecular Pathology and Diagnostics of Cancer, 1
Cancer Growth and Progression 16, DOI 10.1007/978-94-007-7192-5_1,
© Springer Science+Business Media Dordrecht 2014