Diagnostic Molecular Pathology

William B. Coleman, PhD is the Executive Officer for the American Society for Investigative Pathology (Rockville, MD). Prior to taking this position with the American Society for Investigative Pathology, Dr. Coleman spent 28 years at the University of North Carolina School of Medicine (Chapel Hill, NC), first as a postdoctoral fellow (1990-1995) and then as a faculty member (1995-2018) in the Department of Pathology and Laboratory Medicine. During his time at the UNC School of Medicine, Dr. Coleman served as Director of Graduate Studies for the Molecular and Cellular Pathology Ph.D. Program (2006-2012; now the Pathobiology and Translational Medicine Ph.D. Program), was a co-founder of the UNC Program in Translational Medicine and served as its Co-Director (2006-2015) and then its Director (2015-2018), was affiliated with the Curriculum in Toxicology, the Cancer Biology Training Program, and was a member of the UNC Lineberger Comprehensive Cancer Center. Dr. Coleman was active in teaching biomedical graduate students and is a four-time recipient of the Joe W. Grisham Award for Excellence in Graduate Student Teaching from the Molecular and Cellular Pathology graduate students at the UNC School of Medicine. Prior to becoming an employee, Dr. Coleman was active in the leadership of the American Society for Investigative Pathology, serving in various roles including President (2015-2016). Dr. Coleman was honored with the ASIP Outstanding Investigator Award in 2013 from the American Society for Investigative Pathology. He is also a long-time member of the American Association for Cancer Research. He serves as Senior Associate Editor for The American Journal of Pathology, and is an Associate Editor for BMC Cancer, and PLoS One, and serves on the editorial boards of Clinica Chimica Acta, Experimental and Molecular Pathology, Archives of Pathology and Laboratory Medicine, Laboratory Investigation, and Current Pathobiology Reports, and has served as an ad hoc reviewer for 99 other journals. Dr. Coleman’s major research interests are in the molecular pathogenesis of human cancers, with a specific interest in breast cancer epigenetics, liver carcinogenesis, and lung cancer biology. His research was funded by the NIH/NCI, The Susan G. Komen Breast Cancer Foundation, Friends for an Earlier Breast Cancer Test, and the UNC Lineberger Comprehensive Cancer Center. Dr. Coleman is the author of over 140 original research articles, reviews, and book chapters. In addition, Dr. Coleman has co-edited or co-authored ten books on topics related to molecular pathology, molecular diagnostics, and the molecular pathogenesis of human cancer. Gregory J. Tsongalis, PhD, HCLD, CC, FNACB., is the Vice Chair for Research and the Director of the Laboratory for Clinical Genomics and Advanced Technology (CGAT) in the Department of Pathology and Laboratory Medicine at the Dartmouth-Hitchcock Medical Center and Norris Cotton Cancer Center (NCCC) in Lebanon, NH. He is a Professor of Pathology and Laboratory Medicine at the Audrey and Theodor Geisel School of Medicine at Dartmouth in Hanover, NH and a member of the NCCC Molecular Therapeutics Program and the gastrointestinal and breast cancer clinical oncology groups. In 2016 he became a member of Dartmouth College’s Program in Experimental and Molecular Medicine (PEMM), and he has served on the advisory board of the Health Care Genetics Professional Science Master’s Degree Program and Diagnostic Genetic Sciences Program at the University of Connecticut (Storrs, CT). His area of expertise is in the development and implementation of clinical molecular diagnostic technologies. His research interests are in the pathogenesis of human cancers, personalized medicine and disruptive technologies. He has authored/edited twelve textbooks in the field of molecular pathology, published more than 230 peer reviewed manuscripts, and has been an invited speaker at both national and international meetings. He has served on numerous committees of the American Association for Clinical Chemistry, the American Society for Investigative Pathology, the Federation for American Societies for Experimental Biology, and the Association for Molecular Pathology (where he is a past President). He is active in the Alliance for Clinical Trials in Oncology, the Association for Molecular Pathology, the American Association for Clinical Chemistry, the American Association of Bioanalysts, and the American Society for Investigative Pathology. He serves on the editorial boards of 8 journals including Clinical Chemistry, Experimental and Molecular Pathology, and the Journal of Molecular Diagnostics. In 2016, Dr. Tsongalis received the Norris Cotton Cancer Center Award for Excellence, in 2017 the Association for Molecular Pathology (AMP) Jeffrey A. Kant Leadership Award, and in 2019 the American Society for Investigative Pathology Robbins Distinguished Educator Award. He also serves on numerous corporate scientific advisory boards.

Praise for the First Edition:"Diagnostic Molecular Pathology is destined to become an important cornerstone and go-to volume for pathologists, researchers, and clinicians, indeed anyone who wants to understand the approach and application of modern molecular techniques in disease detection and diagnosis. Drs. Coleman and Tsongalis, and their impressive stable of contributors, are to be congratulated for making the exciting and rapidly expanding science of molecular diagnosis accessible to the novice, while also providing the expert with important details on the nuances. Beyond just a compendium of useful information, it is a well-curated journey through basic concepts, infectious diseases, malignancy, hematopathology, and genetic diseases, and even includes access to a website with lab test videos and decision-making exercises." --Richard N. Mitchell, MD, PhD (Brigham and Women's Hospital and Harvard Medical School)"With much fanfare, molecular techniques have revolutionized clinical medicine, from diagnosis to personalized medical therapeutics. It is with this background that Diagnostic Molecular Pathology approaches the daunting task of summarizing the advances in the field from infectious disease, heritable and acquired genetic diseases, hematological malignancies, to pharmacogenomics. In a comprehensive publication, the editors perform a yeoman’s effort in covering this dynamic and exciting field." --Lawrence M. Silverman, PhD (University of Virginia School of Medicine)"Diagnostic Molecular Pathology provides a panoramic view of diagnostic molecular pathology testing, written by leaders in the field. It is a great reference and learning tool." --Dani S. Zander, MD (University of Cincinnati Medical Center)

• Section 1 – Introduction to Molecular Testing1. Introduction to Molecular Testing in Human Disease2. The Polymerase Chain Reaction and Other Amplification Methodologies3. Whole-exome and Whole Genome Sequencing in the Molecular Diagnostic Laboratory4. Long-read Sequencing Section 2 – Molecular Testing in Infectious Disease5. Molecular Testing for Human Immunodeficiency Virus6. Molecular Testing in Hepatitis Virus-related Disease7. Molecular Testing for Human Papilloma Viruses8. Molecular Testing for Parvoviruses9. Molecular Testing for Polyomaviruses10. Molecular Testing for Respiratory Viruses 11. Molecular Testing for Diseases Associated with Bacterial Infection12. Agents Associated with Sexually-transmitted Infections13. Molecular Methods for Healthcare-Acquired Infections14. Molecular Testing in Emerging Infectious Diseases15. Molecular and Serological Testing in the Setting of a Global PandemicSection 3 – Molecular Testing in Genetic Disease16. Non-invasive Prenatal Screening (NIPS) for Fetal Aneuploidies17. Molecular Testing in Cardiomyopathies18. Molecular Diagnostics for Coagulopathies19. Molecular Diagnosis of Cystic Fibrosis20. Molecular Testing in Hemochromatosis21. Molecular Testing for Spinal Muscular Atrophy22. Molecular Testing for Autism Spectrum DisordersSection 4 – Molecular Testing in Oncology23. Molecular Testing in Breast Cancer24. Molecular Testing in Lung Cancer25. Molecular Testing in Colorectal Cancer26. Molecular Pathology and Testing in Melanocytic Tumors27. Molecular Testing for Glioblastoma 28. Molecular Testing in Pancreatic Cancer29. Molecular Testing in Gynecologic Cancer30. The Emerging Genetic Landscape in Renal Cell Carcinoma31. Molecular Testing in Thyroid Cancer32. Molecular Testing for Pediatric Cancers33. Molecular Pathogenesis of Soft Tissue and Bone Tumors 34. Molecular Pathology of Gastrointestinal Stromal Tumors35. Molecular Pathology of Liver CancerSection 5 – Molecular Testing in Hematopathology36. Molecular Testing in Myeloproliferative Neoplasms37. Molecular Testing in Myelodysplastic Syndromes 38. Molecular Testing in Acute Myeloid Leukemia39. Molecular Testing in the Assessment of Bone Marrow Transplant EngraftmentSection 6 – Molecular Testing in Personalized Medicine40. Pharmacogenomics in Cardiovascular Disease41. Personalized Medicine for Disorders of Hemostasis and Thrombosis42. Personalized Medicine in Cancer Treatment Section 7 – The Future of Molecular Testing43. Imaging Mass Spectroscopy in Clinical Pathology 44. Artificial Intelligence and Deep Learning in Molecular Testing45. Nanotechnology in Molecular Diagnostics 46. Chip-based Nanotechnology in the Molecular Pathology Laboratory and Beyond47. Translational and Clinical Applications of the GeoMx® Digital Spatial Profiling Platform