This 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.

Autorentext

Debra G.B. Leonard, M.D., Ph.D. is Professor, Vice Chair for Laboratory Medicine, Director of the Clinical Laboratories, and Director of the Pathology Residency Training Program in the Department of Pathology and Laboratory Medicine at Weill Cornell Medical College and NewYork-Presbyterian Hospital. As of July 1, 2009, Dr. Leonard was appointed Chief Diversity Officer for Weill Cornell Medical College. She is an expert in molecular diagnostics for genetic, cancer and infectious diseases. Her M.D. and Ph.D. degrees were completed at the New York University School of Medicine, where she also did her postgraduate clinical training in Anatomic Pathology, including a Surgical Pathology Fellowship. She is certified by the American Board of Pathology in Anatomic Pathology, and by the American Boards of Pathology and Medical Genetics in Molecular Genetic Pathology. Currently, Dr. Leonard is a member of the Institute of Medicine Roundtable on Translating Genomic-based Research for Health and Chair of the Diagnostic Applications Working Group of this Roundtable. Dr. Leonard is a past member of the Secretary's Advisory Committee on Genetics Health and Society (SACGHS) to Secretary Michael O. Leavitt, and a past President of the Association for Molecular Pathology. She has spoken widely on various molecular pathology test services, the future of molecular diagnostics and the impact of gene patents on molecular pathology practice and patient access to molecular diagnostic testing services. Most recently, Dr. Leonard was honored by receiving the 2009 Leadership Award from the Association for Molecular Pathology.

Inhalt

Chapter 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. Hollenbac…