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Molecular Pathology in Clinical Practice


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Table of Contents

Chapter 1 Basics of Molecular Biology Deborah Ann PayneChapter 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 GeneticsElaine Lyon, Section EditorChapter 3 Genetic CounselingChristine E. MillerChapter 4 Pedigree Analysis and Risk AssessmentPatti Krautscheid and Danielle LaGraveChapter 5 Bayesian AnalysisRobert B. Wilson and Shuji OginoChapter 6 Intellectual Disability and Developmental Delay: Cytogenetic TestingGuangyu Gu, Reha Toydemir, Sarah T. SouthChapter 7 Developmental Delay: Gene TestingChristin D. Collins, Monica J. Basehore, Kristen J. Champion, Michael J. FriezChapter 8 Congenital Disorders of GlycosylationMelanie A. Jones and Madhuri R. HegdeChapter 9 Neuromuscular DiseasesThomas W. PriorChapter 10 Mitochondrial DisordersRenkui Bai and Jaime D. HiggsChapter 11 Metabolic DisordersLisa Edelmann, Yaping Yang, Amy C. Yang, Ruth KornreichChapter 12 Fibroblast Growth Factor Receptor and Related Skeletal DisordersSteven Sperber and Elaine SpectorChapter 13 Cystic FibrosisLora J.H. Bean and V. M. PrattChapter 14 DeafnessA. Eliot Shearer, Robert W. Eppsteiner, Richard J.H. SmithChapter 15 Coagulation DisordersRajiv K. Pruthi, Michelle L. Kluge, Aneel A. AshraniChapter 16 Hematologic Disorders: Hemochromatosis, Hemoglobinopathies, and Rh IncompatibilityDaniel B. Bellissimo and Archana Agarwal Chapter 17 Cardiovascular DiseaseSamantha M. Baxter and Birgit H. FunkeChapter 18 Neurodegenerative DisordersMaria Martinez-LageChapter 19 Polycystic Kidney DiseaseAdrian Y. Tan, Jon D. Blumenfeld and Hanna RennertChapter 20 Host Factor Pharmacogenetics for Treatment of Infectious DiseasesPatricia R. Slev and David R. HillyardChapter 21 PharmacogeneticsStuart A. Scott and Elaine LyonPart Two Inherited CancersHanna Rennert, Section EditorChapter 22 Inherited Breast CancerRachel Michaelson-Cohen, Rachel Beeri, Eliahu Golomb, Ephrat Levy-LahadChapter 23 Familial Adenomatous Polyposis and Turcot and Peutz-Jeghers SyndromesKandelaria M. RumillaChapter 24 Hereditary Nonpolyposis Colorectal Cancer and Lynch SyndromeJames P. GrenertChapter 25 Multiple Endocrine Neoplasia SyndromesBarbara A. ZehnbauerChapter 26 von Hippel-Lindau DiseaseCatherine A. StolleChapter 27 Hereditary Skin Cancer Dani Bercovich and Inbal KedarChapter 28 Li-Fraumeni Syndrome Arupa Ganguly and Zhao ChenChapter 29 Retinoblastoma Arupa Ganguly and Zhao ChenChapter 30 Hereditary Paraganglioma and PheochromocytomaFang-Yuan Li and Lee-Jun C. Wong Part Three Solid TumorsAntonia R. Sepulveda, Section EditorChapter 31 Colorectal CancerAntonia R. Sepulveda, Deqin Ma, Kathryn C. Behling, Helen FernandesChapter 32 Lung CancerDara L. Aisner, Robert C. Doebele, Marileila Varella-Garcia, Wilbur A. FranklinChapter 33 Breast Cancer Carolyn MiesChapter 34 Urothelial CarcinomaKevin C. HallingChapter 35 Prostate CancerPriti LalChapter 36 Thyroid CancerMarina N. Nikiforova and Yuri E. NikiforovChapter 37 Sarcomas and Related Mesenchymal TumorsGiovanni Tallini, Dario de Biase and Pei HuiChapter 38 GliomasEhud LaviChapter 39 Molecular Detection of Circulating Tumor Cells and Cell-Free Nucleic AcidsNirali M. Patel and Karen Kaul Part Four Neoplastic HematopathologyIris Schrijver, Section EditorChapter 40 Acute Myeloid LeukemiaDavid Grimwade, Steven Knapper, and Krzysztof MrozekChapter 41 Acute Lymphoblastic LeukemiaCarlos Alberto Scrideli, Giovanni Cazzaniga, and Andrea BiondiChapter 42 B-Cell MalignanciesJennifer B. Dunlap, Guang Fan, Nicky Leeborg, Rita M. BrazielChapter 43 T-Cell LymphomasJason D. Merker and Daniel A. ArberChapter 44 Myeloproliferative Neoplasms and Myelodysplastic SyndromesAlbert K. Ho and Daniel M. Jones Part Five Infectious DiseasesAngela M. Caliendo, Section EditorChapter 45 Human Immunodeficiency Virus Type 1Angela M. Caliendo and Colleen S. KraftChapter 46 Hepatitis B and C VirusesFrederick S. NolteChapter 47 Viral Infections in Transplant RecipientsRaymund R. Razonable and Randall T. HaydenChapter 48 Viral Infections of the Central Nervous SystemDuane W. Newton and Christine C. GinocchioChapter 49 Bacterial InfectionsKevin Alby and Melissa B. MillerChapter 50 Gastrointestinal InfectionsEileen M. Burd and Benjamin H. HinrichsChapter 51 Sexually Transmitted DiseasesJeanne A. JordanChapter 52 Respiratory InfectionsChristine C. GinocchioChapter 53 Mycobacterial InfectionsBetty A. Forbes Part Six Identity TestingVivianna M. Van Deerlin, Section EditorChapter 54 Forensic DNA TypingVictor W. Weedn and David R. ForanChapter 55 Parentage and Relationship TestingRobert W. Allen and Herbert F. PoleskyChapter 56 Chimerism Testing in Allogeneic Hematopoietic Stem Cell TransplantationVivianna M. Van Deerlin and Ran ReshefChapter 57 Specimen Identification through DNA AnalysisGregary Bocsi, Andrew Ricci Jr., Gregory J. Tsongalis, Vivianna M. Van Deerlin Part Seven HLA TypingDebra G. B. Leonard, Section EditorChapter 58 Molecular HLA TypingMalek Kamoun, Jill A. Hollenbach, Steven J. Mack, Thomas M. Williams Part Eight Evolving Clinical Molecular TechnologiesDebra G. B. Leonard, Section EditorChapter 59 Next Generation Sequencing: Principles for Clinical ApplicationKarl V. Voelkerding, Emily M. Coonrod, Jacob D. Durtschi, Rebecca L. MargrafChapter 60 Next Generation Sequencing for the Analysis of Cancer SpecimensJohn D. PfeiferChapter 61 Clinical Applications of ProteomicsDelphine Rolland and Kojo S.J. Elenitoba-Johnson Part Nine Laboratory Management Debra G. B. Leonard, Section EditorChapter 62 Molecular Pathology Laboratory ManagementHanna Rennert and Debra G.B. Leonard

About the Author

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.


"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)

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