BookYi Ding, Linsheng Zhang, editors.
Summary: This book is a review and high-yield reference on the clinical molecular diagnostics of malignant neoplasms. It aims to address the practical questions frequently encountered in the molecular oncology practice, as well as key points and pitfalls in the clinical interpretation of molecular tests in guiding precision cancer management. The text uses a Q&A format and case presentations, with emphasis on understanding the molecular test methods, diagnosis, classification, risk assessment and clinical correlation. Starting with an update on the molecular biology of cancer, the book focuses on the topics related to molecular diagnostics and genetics-based precision oncology. Separate chapters are dedicated to discussion of the bioinformatics for the analysis of genetic/genomic data generated from molecular assays, and quality control (QC)/quality assurance (QA) programs in the clinical laboratories; both are critical in producing high quality results for clinical care of cancer patients. These are followed by organ system-based reviews and discussions on the molecular genetic abnormalities and related tests covering diverse types of common to rare malignant neoplasms. This book also provides up-to-date knowledge related to malignant neoplasms, discusses the established as well as evolving requirements for pathologic diagnosis of these malignancies. It also discusses the cost effective utilization of molecular tests in clinical oncology. Written by experts in the field, Practical Oncologic Molecular Pathology serves as a valuable reference for practicing pathologists, fellows, residents and other health care professionals.
Contents:
Intro
Preface
Contents
Contributors
Part I: Molecular Methods and Data Analysis in Clinical Molecular Diagnostic Laboratories
1: The Molecular Pathobiology of Malignant Process and Molecular Diagnostic Testing for Cancer
List of Frequently Asked Questions
Frequently Asked Questions
Case Presentations
Case 1
Learning Objectives
Case History
Initial Work-up
Histologic Findings
Molecular Genetic Study
Final Diagnosis
Discussion
Case 2
Learning Objectives
Case History
Molecular Genetic Studies
Final Diagnosis
Clinical Follow-Up Discussion
Case 3
Learning Objectives
Case History
Laboratory Findings
Molecular Genetic Studies
Final Diagnosis
Discussion
Case 4
Learning Objective
Case History
Molecular Genetic Studies
Final Diagnosis
Discussion
Case 5
Learning Objectives
Case History
Molecular Genetic Studies
Final Diagnosis
Discussion
References
2: Molecular Diagnostic Methods
List of Frequently Asked Questions
Frequently Asked Questions
Case Examples
Case #1
Learning Objectives
Case History
Final Diagnosis
Discussion
Case #2 Learning Objectives
Case History
Laboratory Work-up
Histologic Findings
Molecular Genetic Studies
Final Diagnosis
Discussion
NGS Sequencing Results
Case #3
Learning Objectives
Case History
Final Diagnosis
Discussion
Case #4
Learning Objectives
Case History
Final Diagnosis
Discussion
References
3: Bioinformatics Analysis in Molecular Pathology
List of Frequently Asked Questions
Frequently Asked Questions
Cases
Case 1: HGVS Nomenclature and Rules
Discussion for Case 1
Case 2: Read Depth and Molecular Bar Coding Discussion for Case 2
Case 3: FASTQ Format and Mate-Pairs
Discussion for Case 3
Case 4: Variant Filtering
Discussion for Case 4
Case 5: Protected Health Information and Cloud Services
Discussion for Case 5
References
4: Quality Assurance and Quality Control in Molecular Diagnostic Laboratories
List of Frequently Asked Questions
Frequently Asked Questions
Case Presentations
Case 1
Learning Objective
Case History
Case 2
Learning Objective
Case History
Case 3
Learning Objective
Case History
References Part II: Molecular Pathology of Solid and Soft Tissue Tumors
5: Breast and Gynecologic Tumors
List of Frequently Asked Questions
Frequently Asked Questions
Case Presentations
Case 1
Case History
Histologic Finding
Differential Diagnosis
Ancillary Studies
Final Diagnosis
Discussion
Case 2
History
HER2 Testing
Final HER2 Interpretation
Discussion
Case 3
History
Gross Findings
Histologic Findings
Differential Diagnosis
Ancillary Studies
Final Diagnosis
Discussion
Case 4
History
Histologic Findings
MMR Studies