Description
Book SynopsisThis authoritative textbook offers in-depth coverage of all aspects of molecular pathology practice and embodies the current standard in molecular testing. Since the successful first edition, new sections have been added on pharmacogenetics and genomics, while other sections have been revised and updated to reflect the rapid advances in the field. The result is a superb reference that encompasses molecular biology basics, genetics, inherited cancers, solid tumors, neoplastic hematopathology, infectious diseases, identity testing, HLA typing, laboratory management, genomics and proteomics. Throughout the text, emphasis is placed on the molecular variations being detected, the clinical usefulness of the tests and important clinical and laboratory issues.
The second edition of Molecular Pathology in Clinical Practice will be an invaluable source of information for all practicing molecular pathologists and will also be of utility for other pathologists, clinical colleagues and trainees.
Trade Review“This is an invaluable source of information for all practicing molecular pathologists, medical geneticists, pathology and genetics residents, and molecular pathology fellows. It also will be useful to surgical and clinical pathologists, hematologists, oncologists, internists, scientists who undertake disease-related basic science and translational research, and medical laboratory technologists. … All chapters are written by pathologists and scientists experienced in the practical applications of clinical molecular pathology tests. … I highly recommend this as one of the must-have and must-read books.” (Michel Nasr, Doody's Book Reviews, June, 2016)
Table of ContentsChapter 1 Basics of Molecular Biology
Deborah Ann Payne
Chapter 2 Molecular Pathology Methods
D. Hunter Best, Shale A. Dames, Whitney Wooderchak-Donahue, Tracey Lewis, Kelli L. Sumner, Cecily P. Vaughn, Rong Mao and Daniel H. Farkas
Part One Section I Genetics
Elaine Lyon, Section Editor
Chapter 3 Genetic Counseling
Christine E. Miller
Chapter 4 Pedigree Analysis and Risk Assessment
Patti Krautscheid and Danielle LaGrave
Chapter 5 Bayesian Analysis
Robert B. Wilson and Shuji Ogino
Chapter 6 Intellectual Disability and Developmental Delay: Cytogenetic Testing
Guangyu Gu, Reha Toydemir, Sarah T. South
Chapter 7 Developmental Delay: Gene Testing
Christin D. Collins, Monica J. Basehore, Kristen J. Champion, Michael J. Friez
Chapter 8 Congenital Disorders of Glycosylation
Melanie A. Jones and Madhuri R. Hegde
Chapter 9 Neuromuscular Diseases
Thomas W. Prior
Chapter 10 Mitochondrial Disorders
Renkui Bai and Jaime D. Higgs
Chapter 11 Metabolic Disorders
Lisa Edelmann, Yaping Yang, Amy C. Yang, Ruth Kornreich
Chapter 12 Fibroblast Growth Factor Receptor and Related Skeletal Disorders
Steven Sperber and Elaine Spector
Chapter 13 Cystic Fibrosis
Lora J.H. Bean and V. M. Pratt
Chapter 14 Deafness
A. Eliot Shearer, Robert W. Eppsteiner, Richard J.H. Smith
Chapter 15 Coagulation Disorders
Rajiv K. Pruthi, Michelle L. Kluge, Aneel A. Ashrani
Chapter 16 Hematologic Disorders: Hemochromatosis, Hemoglobinopathies, and Rh Incompatibility
Daniel B. Bellissimo and Archana Agarwal
Chapter 17 Cardiovascular
Disease
Samantha M. Baxter and Birgit H. Funke
Chapter 18 Neurodegenerative Disorders
Maria Martinez-Lage
Chapter 19 Polycystic Kidney Disease
Adrian Y. Tan, Jon D. Blumenfeld and Hanna Rennert
Chapter 20 Host Factor Pharmacogenetics for Treatment of Infectious Diseases
Patricia R. Slev and David R. Hillyard
Chapter 21 Pharmacogenetics
Stuart A. Scott and Elaine Lyon
Part Two Inherited Cancers
Hanna Rennert, Section Editor
Chapter 22 Inherited Breast Cancer
Rachel Michaelson-Cohen, Rachel Beeri, Eliahu Golomb, Ephrat Levy-Lahad
Chapter 23 Familial Adenomatous Polyposis and Turcot and Peutz-Jeghers Syndromes
Kandelaria M. Rumilla
Chapter 24 Hereditary Nonpolyposis Colorectal Cancer and Lynch Syndrome
James P. Grenert
Chapter 25 Multiple Endocrine Neoplasia Syndromes
Barbara A. Zehnbauer
Chapter 26 von Hippel-Lindau Disease
Catherine A. Stolle
Chapter 27 Hereditary Skin Cancer
Dani Bercovich and Inbal Kedar
Chapter 28 Li-Fraumeni Syndrome
Arupa Ganguly and Zhao Chen
Chapter 29 Retinoblastoma
Arupa Ganguly and Zhao Chen
Chapter 30 Hereditary Paraganglioma and Pheochromocytoma
Fang-Yuan Li and Lee-Jun C. Wong
Part Three Solid Tumors
Antonia R. Sepulveda, Section Editor
Chapter 31 Colorectal Cancer
Antonia R. Sepulveda, Deqin Ma, Kathryn C. Behling, Helen Fernandes
Chapter 32 Lung Cancer
Dara L. Aisner, Robert C. Doebele, Marileila Varella-Garcia, Wilbur A. Franklin
Chapter 33 Breast Cancer
Carolyn Mies
Chapter 34 Urothelial Carcinoma
Kevin C. Halling
Chapter 35 Prostate Cancer
Priti Lal
Chapter 36 Thyroid
Cancer
Marina N. Nikiforova and Yuri E. Nikiforov
Chapter 37 Sarcomas and Related Mesenchymal Tumors
Giovanni Tallini, Dario de Biase and Pei Hui
Chapter 38 Gliomas
Ehud Lavi
Chapter 39 Molecular Detection of Circulating Tumor Cells and Cell-Free Nucleic Acids
Nirali M. Patel and Karen Kaul
Part Four Neoplastic Hematopathology
Iris Schrijver, Section Editor
Chapter 40 Acute Myeloid Leukemia
David Grimwade, Steven Knapper, and Krzysztof Mrózek
Chapter 41 Acute Lymphoblastic Leukemia
Carlos Alberto Scrideli, Giovanni Cazzaniga, and Andrea Biondi
Chapter 42 B-Cell Malignancies
Jennifer B. Dunlap, Guang Fan, Nicky Leeborg, Rita M. Braziel
Chapter 43 T-Cell Lymphomas
Jason D. Merker and Daniel A. Arber
Chapter 44 Myeloproliferative Neoplasms and Myelodysplastic Syndromes
Albert K. Ho and Daniel M. Jones
Part Five Infectious Diseases
Angela M. Caliendo, Section Editor
Chapter 45 Human Immunodeficiency Virus Type 1
Angela M. Caliendo and Colleen S. Kraft
Chapter 46 Hepatitis B and C Viruses
Frederick S. Nolte
Chapter 47 Viral Infections in Transplant Recipients
Raymund R. Razonable and Randall T. Hayden
Chapter 48 Viral Infections of the Central Nervous System
Duane W. Newton and Christine C. Ginocchio
Chapter 49 Bacterial Infections
Kevin Alby and Melissa B. Miller
Chapter 50 Gastrointestinal Infections
Eileen M. Burd and Benjamin H. Hinrichs
Chapter 51 Sexually Transmitted Diseases
Jeanne A. Jordan
Chapter 52 Respiratory Infections
Christine C. Ginocchio
Chapter 53 Mycobacterial Infections
Betty A. Forbes
Part Six Identity
Testing
Vivianna M. Van Deerlin, Section Editor
Chapter 54 Forensic DNA Typing
Victor W. Weedn and David R. Foran
Chapter 55 Parentage and Relationship Testing
Robert W. Allen and Herbert F. Polesky†
Chapter 56 Chimerism Testing in Allogeneic Hematopoietic Stem Cell Transplantation
Vivianna M. Van Deerlin and Ran Reshef
Chapter 57 Specimen Identification through DNA Analysis
Gregary Bocsi, Andrew Ricci Jr., Gregory J. Tsongalis, Vivianna M. Van Deerlin
Part Seven HLA Typing
Debra G. B. Leonard, Section Editor
Chapter 58 Molecular HLA Typing
Malek Kamoun, Jill A. Hollenbach, Steven J. Mack, Thomas M. Williams†
Part Eight Evolving Clinical Molecular Technologies
Debra G. B. Leonard, Section Editor
Chapter 59 Next Generation Sequencing: Principles for Clinical Application
Karl V. Voelkerding, Emily M. Coonrod, Jacob D. Durtschi, Rebecca L. Margraf
Chapter 60 Next Generation Sequencing for the Analysis of Cancer Specimens
John D. Pfeifer
Chapter 61 Clinical Applications of Proteomics
Delphine Rolland and Kojo S.J. Elenitoba-Johnson
Part Nine Laboratory Management
Debra G. B. Leonard, Section Editor
Chapter 62 Molecular Pathology Laboratory Management
Hanna Rennert and Debra G.B. Leonard
