Skip to main content
Elsevier
View Cart

Diagnostic Molecular Pathology

A Guide to Applied Molecular Testing

  • 2nd Edition - October 18, 2023
  • Latest edition
  • Editors: William B. Coleman, Gregory J. Tsongalis
  • Language: English

Diagnostic Molecular Pathology: A Guide to Applied Molecular Testing, Second Edition assembles a group of experts to discuss the molecular basis and mechanisms of major human… Read more

World Book Day celebration

Where learning shapes lives

Up to 25% off trusted resources that support research, study, and discovery.

Explore resources

Description

Diagnostic Molecular Pathology: A Guide to Applied Molecular Testing, Second Edition assembles a group of experts to discuss the molecular basis and mechanisms of major human diseases and disease processes and how the molecular features of disease can be harnessed to develop practical molecular tests for disease detection, diagnosis and prognosis. The book explains how molecular tests are utilized in the treatment of patients in personalized medicine, highlights new technologies and approaches of applied molecular pathology, and discusses how this discovery-based research yields new and useful biomarkers and tests.

As it is essential to stay up-to-date on new molecular diagnostics in this changing field, this book covers critically important areas in the practice of personalized medicine and reflects our understanding of the pathology, pathogenesis and pathophysiology of human disease.

Key features

  • Includes new material on mass spectrometry for infectious diseases, microbiome, homology-directed repair for PARPi, whole genome sequencing for constitutional testing, and much more
  • Provides insights on the value of the molecular test in comparison to traditional methods, which include speed, precision, sensitivity and clinical impacts for the patient
  • Focuses on the menu of molecular diagnostic tests available in modern molecular pathology or clinical laboratories that can be applied to disease detection, diagnosis and classification in the clinical workup of a patient
  • Explains how molecular tests are utilized to guide the treatment of patients in personalized medicine (guided therapies) and for the prognostication of disease

Readership

Fellows, professional clinicians in pathology, laboratory medicine, and across internal medicine subspecialties, and secondary appeal to biomedical researchers

Table of contents

Section 1 – Introduction to Molecular Testing

1. Introduction to Molecular Testing in Human Disease
William B. Coleman, Ph.D., and Gregory J. Tsongalis, Ph.D.

2. The Polymerase Chain Reaction and Other Amplification Methodologies
William B. Coleman, Ph.D., and Gregory J. Tsongalis, Ph.D.

3. Whole-exome and Whole Genome Sequencing in the Molecular Diagnostic Laboratory
Wahab A. Khan, Ph.D.

4. Long-read Sequencing
Robert Hamilton, M.D., and Samantha Stephen, D.O.

Section 2 – Molecular Testing in Infectious Disease

5. Molecular Testing for Human Immunodeficiency Virus
Thomas Bourlet, Pharm.D., Ph.D., Sylvie Pillet, Pharm.D., Ph.D., Meriam Memmi, Ph.D., and Bruno Pozzetto, M.D., Ph.D.

6. Molecular Testing in Hepatitis Virus-related Disease
Patricia M. Mulrooney-Cousins, Ph.D., and Tomasz I. Michalak, M.D., Ph.D.

7. Molecular Testing for Human Papilloma Viruses
Katie M. Bennett, Ph.D.

8. Molecular Testing for Parvoviruses
Giorgio Gallinella, M.D., Ph.D.

9. Molecular Testing for Polyomaviruses
Gary W. Procop, M.D. and Belinda Yen-Lieberman, Ph.D.

10. Molecular Testing for Respiratory Viruses
Margaret V. Powers-Fletcher, Ph.D. and Eleanor A. Powell, Ph.D.

11. Molecular Testing for Diseases Associated with Bacterial Infection
Cecilia M. Thompson, Ph.D.

12. Agents Associated with Sexually-transmitted Infections
Paul O. Verhoeven, M.D., Ph.D., Sylvie Gonzalo, Meriam Memmi, Ph.D., Bruno Pozzetto, M.D., Ph.D., and Florence Grattard

13. Molecular Methods for Healthcare-Acquired Infections
Zachary Yetmar, M.D., and Elena Beam, M.D.

14. Molecular Testing in Emerging Infectious Diseases
Jianli Dong, M.D., Ph.D., Nahed Ismail, M.D., Ph.D., Eric Fitts, M.D., and David H. Walker, M.D.

15. Molecular and Serological Testing in the Setting of a Global Pandemic
Max Weidmann, M.D., Ph.D., Alex J. Rai, Ph.D., M. Shaheen Malick, M. Shaheen Malick, M.D., Anjali Saqi, MD, MBA, Matthias J. Szabolcs, M.D., Susan Hsiao, M.D., Ph.D., and Helen Fernandes, Ph.D.

Section 3 – Molecular Testing in Genetic Disease

16. Non-invasive Prenatal Screening (NIPS) for Fetal Aneuploidies
Linda Hasadsri, M.D., Ph.D. and Megan A. Allyse, Ph.D.

17. Molecular Testing in Cardiomyopathies
Heather McLaughlin, Ph.D., and Matteo Vatta, Ph.D.

18. Molecular Diagnostics for Coagulopathies
Matthew Smolkin, M.D. and Aaron Shmooker, M.D.

19. Molecular Diagnosis of Cystic Fibrosis
Makenzie L. Fulmer, Ph.D., Yue Si, M.D., Ph.D., and D. Hunter Best, Ph.D.

20. Molecular Testing in Hemochromatosis
Alberto Piperno, M.D.

21. Molecular Testing for Spinal Muscular Atrophy
Diana M. Toledo, Ph.D.

22. Molecular Testing for Autism Spectrum Disorders
Bridget A. Fernandez, M.D., Christian Marshall, Ph.D., Jacob A.S. Vorstman, M.D., Ph.D., and Stephen W. Scherer, Ph.D., D.Sc.,

Section 4 – Molecular Testing in Oncology

23. Molecular Testing in Breast Cancer
Kimberly H. Allison, M.D.

24. Molecular Testing in Lung Cancer
Carolyn J Shiau, M.D., and Ming-Sound Tsao, M.D.

25. Molecular Testing in Colorectal Cancer
Jessica S. Thomas, M.D., Ph.D, M.P.H. and Chanjuan Shi, M.D., Ph.D.

26. Molecular Pathology and Testing in Melanocytic Tumors
Aravindhan Sriharan, M.D.

27. Molecular Testing for Glioblastoma
Dimitri G. Trembath, M.D. (Confirmed)

28. Molecular Testing in Pancreatic Cancer
Neil Sood, M.D., Saraswathi Cappelle, D.O., Massimo Raimondo, M.D., and Michael J. Bartel, M.D., Ph.D.

29. Molecular Testing in Gynecologic Cancer
Sarah E. Kerr, M.D. and Maryam Shahi, M.D.

30. The Emerging Genetic Landscape in Renal Cell Carcinoma
Grace Lee, M.D, Brian M. Shinder, M.D., Evita Sadimin, M.D., Ryan D. Stephenson, D.O., and Eric A. Singer, M.D.

31. Molecular Testing in Thyroid Cancer
John M. Skaugen, M.D. and Yuri E. Nikiforov, M.D., Ph.D.

32. Molecular Testing for Pediatric Cancers
Kristy R. Cooks, Ph.D. and Stephen J. Wicks, Ph.D.

33. Molecular Pathogenesis of Soft Tissue and Bone Tumors
Ourania Parra, M.D., and Konstantinos Linos, M.D.

34. Molecular Pathology of Gastrointestinal Stromal Tumors
Julianna Andrici, M.B.B.S., Ph.D.

35. Molecular Pathology of Liver Cancer
Juliana Andrici, M.B.B.S, Ph.D., and Arief A. Suriawinata, M.D.

Section 5 – Molecular Testing in Hematopathology

36. Molecular Testing in Myeloproliferative Neoplasms
Larissa V. Furtado, M.D., Noah A. Brown, M.D., and Bryan L. Betz, Ph.D.

37. Molecular Testing in Myelodysplastic Syndromes
Noah A. Brown, M.D., and Bryan Betz, Ph.D.

38. Molecular Testing in Acute Myeloid Leukemia
Amir Behdad, M.D., and Bryan Betz, Ph.D.

39. Molecular Testing in the Assessment of Bone Marrow Transplant Engraftment
Jessica K. Booker, Ph.D.

Section 6 – Molecular Testing in Personalized Medicine

40. Pharmacogenomics in Cardiovascular Disease
Richard M. Turner, Ph.D., and Munir Pirmohamed, Ph.D.

41. Personalized Medicine for Disorders of Hemostasis and Thrombosis
Deborah L. Ornstein, M.D,

42. Personalized Medicine in Cancer Treatment
Victoria M. Pratt, Ph.D., and Stuart A. Scott, Ph.D.

Section 7 – The Future of Molecular Testing

43. Imaging Mass Spectroscopy in Clinical Pathology
Jeremy L. Norris, Ph.D., Danielle B. Gutierrez, Ph.D., Nathan Heath Patterson, Ph.D., and Richard M. Caprioli, Ph.D.

44. Artificial Intelligence and Deep Learning in Molecular Testing
Joshua J. Levy, Ph.D., and Louis J. Vaickus, M.D., Ph.D.

45. Nanotechnology in Molecular Diagnostics
Amogha Tadimety, Ph.D., John H. Molinski, M.Sc., and John X.J. Zhang, Ph.D.

46. Chip-based Nanotechnology in the Molecular Pathology Laboratory and Beyond
Lars B. Laurentius, Ph.D., Eamonn Clarke, Christopher Lambert, M.S., Dhruv Patel, M.S., Tawsif Mahmood, M.S., Ling Zang, Ph.D., Himanshu Sant, Ph.D., Bruce K. Gale, Ph.D., and Marc D. Porter, Ph.D.

47. Translational and Clinical Applications of the GeoMx® Digital Spatial Profiling Platform
Sarah E. Church, Ph.D., Jessica Perez, Ph.D., Breana Murphy, M.B.A., Hiromi Sato, Sarah Warren, Ph.D., and Joseph M. Beechem, Ph.D.

Review quotes

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)

Product details

  • Edition: 2
  • Latest edition
  • Published: October 18, 2023
  • Language: English

About the editors

WC

William B. Coleman

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.
Affiliations and expertise
Executive Officer, American Society for Investigative Pathology, Rockville, MD, USA

GT

Gregory J. Tsongalis

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.
Affiliations and expertise
Laboratory for Clinical Genomics and Advanced Technology (CGAT), Department of Pathology and Laboratory Medicine, Dartmouth, Hitchcock Medical Center and Dartmouth Cancer Center, Lebanon, NH, United States and the Geisel School of Medicine at Dartmouth, Hanover, NH, USA

View book on ScienceDirect

Read Diagnostic Molecular Pathology on ScienceDirect