Molecular Pathology in Clinical Practice

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)

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 Secretarys 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.

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 Mrzek 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 Dan