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.
Author(s): Yi Ding; Linsheng Zhang
Series: Practical Anatomic Pathology
Publisher: Springer
Year: 2021
Language: English
Pages: 328
City: Singapore
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
Genetic Testing
Follow-up
Discussion
References
6: Tumors of the Central Nervous System
List of Frequently Asked Questions
Frequently Asked Questions
Case Presentations
Case 1
Learning Objective
Case History
Histologic Features
Genetic Study
Final Diagnosis
Discussion
Case 2
Learning Objective
Case History
Histologic Features
Genetic Study
Final Diagnosis
Discussion
Case 3
Learning Objective
Case History
Histologic Features
Genetic Study
Final Diagnosis
Discussion
Case 4
Learning Objective
Case History
Histologic Features
Genetic Study
Final Diagnosis
Discussion
Case 5
Learning Objective
Case History
Histologic Features
Genetic Study
Final Diagnosis
Discussion
Case 6
Learning Objective
Case History
Histologic Features
Genetic Study
Final Diagnosis
Discussion
References
7: Lung Cancer
List of Frequently Asked Questions
Frequently Asked Questions
Case Presentations
Case 1
Learning Objectives
Case History
Pathological Diagnosis
Molecular Genetic Study
Clinical Follow-Up
Discussion
Case 2
Learning Objective
Case History
Pathological Diagnosis
Molecular Genetic Studies
Clinical Follow-Up
Discussion
Case 3
Learning Objectives
Case History
Pathologic Diagnosis
Molecular Genetic Studies
Discussion
Case 4
Learning Objectives
Case History
Pathological Diagnosis
Molecular Genetic Studies
Discussion
Case 5
Learning Objectives
Case History
Pathologic Diagnosis
FISH Analysis
Discussion
Case 6
Learning Objective
Case History
Pathologic Diagnosis
Molecular Genetic Studies
Discussion
References
8: Gastrointestinal, Hepatobiliary, and Pancreatic Tumors
List of Frequently Asked Questions
Frequently Asked Questions
Case Presentations
Case 1
Learning Objective
Case History
Surgical Pathology Findings
Molecular Genetic Findings
Final Diagnosis/Summary
Follow-Up
Discussion
Case 2
Learning Objective
Case History
Surgical Pathology Findings
Molecular Genetic Findings
Final Diagnosis/Summary
Follow-Up
Discussion
Case 3
Learning Objective
Case History
Surgical Pathology Findings
Molecular Genetic Findings
Final Diagnosis/Summary
Follow-Up
Discussion
References
9: Skin Tumors
List of Frequently Asked Questions
Frequently Asked Questions
Case Presentations
Case 1
Learning Objective
Case History
Histologic Findings
Genetic Study
Final Diagnosis
Follow-Up
Discussion
Case 2
Learning Objective
Case History
Histologic Findings
Genetic Study
Final Diagnosis
Follow-Up
Discussion
Case 3
Learning Objective
Case History
Histologic Findings
Genetic Study
Additional Clinical History
Final Diagnosis
Follow-Up
Discussion
Case 4
Learning Objective
Case History
Histologic Findings
Genetic Study
Final Diagnosis
Follow-Up
Discussion
References
10: Soft Tissue Tumors
List of Frequently Asked Questions
Frequently Asked Questions
Case 1
Case History
Histologic Features
Choice of Molecular Testing
Molecular Study
Final Diagnosis
Case Discussion
Case 2
Case History
Histologic Features
Molecular Study
Final Diagnosis
Case Discussion
Case 3
Case History
Histologic Features
Molecular Study
Final Diagnosis
Case Discussion
Case 4
Case History
Histologic Features
FISH Results
Final Diagnosis
Case Discussion
Case 5
Case History
Histologic Features
Molecular Study
Final Diagnosis
Case Discussion
Case 6
Case History
Histologic Features
FISH Results
Final Diagnosis
Case Discussion
Case 7
Case History
Histologic Features
Molecular Study
Final Diagnosis
Case Discussion
Case 8
Case History
Histologic Features
Molecular Study
Final Diagnosis
Case Discussion
Case 9
Case History
Histologic Features
Molecular Study
Reflective FISH Results
Final Diagnosis
Case Discussion
Case 10
Case History
Histologic Features
Molecular Study
Final Diagnosis
Case Discussion
References
11: Genitourinary Neoplasms
List of Frequently Asked Questions
Frequently Asked Questions
Case Presentations
Case 1
Learning Objective
Case History
Histologic Findings
Molecular Genetic Study
Final Diagnosis
Follow-Up
Discussion
Case 2
Learning Objective
Case History
Molecular Genetic Study
Histologic Findings
Final Diagnosis
Follow-Up
Discussion
Case 3
Learning Objective
Case History
Histologic Findings
Molecular Genetic Study
Final Diagnosis
Follow-Up
Discussion
References
12: Hereditary Cancer Syndromes and Inherited Cancer Risks
List of Frequently Asked Questions
Frequently Asked Questions
Case Presentations
Case 1
Learning Objectives
Case History
Genetic Study
Final Diagnosis
Follow-Up
Discussion
Case 2
Learning Objective
Case History
Genetic Study
Final Diagnosis
Follow-Up
Discussion
Case 3
Learning Objective
Case History
Genetic Study
Final Diagnosis
Follow-Up
Discussion
Case 4
Learning Objective
Case History
Genetic Study
Final Diagnosis
Follow-Up
Discussion
Case 5
Learning Objective
Case History
Genetic Study
Final Diagnosis
Follow-Up
Discussion
Case 6
Learning Objective
Case History
Histologic Features
Genetic Study
Final Diagnosis
Follow-Up
Discussion
Case 7
Learning Objective
Case History
Histologic Features
Genetic Study
Final Diagnosis
Follow-Up
Discussion
References
Part III: Molecular Hematopathology
13: Acute Myeloid Leukemia
List of Frequently Asked Questions
Frequently Asked Questions
Case Presentations
Case 1
Learning Objectives
Case History and Laboratory Findings
Laboratory Findings
Pathology
Molecular Genetic Tests
Final Diagnosis
Follow-Up
Discussion
Case 2
Learning Objectives
Case History
Laboratory Findings
Flow Cytometry
Histologic Features
Preliminary Diagnosis
Cytogenetic and Molecular Tests
Final Diagnosis
Discussion
Case 3
Learning Objective
Case History
Cytogenetic Studies
Molecular Genetic Studies
Final Diagnosis
Discussion
Case 4
Learning Objective
Case History
Molecular Genetic Studies
Final Diagnosis
Treatment and Clinical Follow-Up
Discussion
Case 5
Learning Objective
Case History
Genetic and Molecular Studies
Final Diagnosis
Treatment and Clinical Follow-Up
Discussion
References
14: Myeloproliferative Neoplasms, Myelodysplastic/Myeloproliferative Neoplasms, and Myelodysplastic Syndromes
List of Frequently Asked Questions
Frequently Asked Questions
Case Presentation
Case 1
Learning Objectives
Case History
Bone Marrow, Biopsy, and Aspirate
Differential Diagnosis
Ancillary Studies
Final Diagnosis
Take Home Messages
Case 2
Learning Objectives
Case History
Bone Marrow, Biopsy and Aspirate
Differential Diagnosis
Ancillary Studies
Final Diagnosis
Take Home Messages
Case 3
Learning Objectives
Case History
Bone Marrow, Biopsy, and Aspirate (BM-184793)
Differential Diagnosis
Ancillary Studies
Final Diagnosis
Take Home Messages
Case 4
Learning Objectives
Case History
Bone Marrow, Biopsy, and Aspirate
Differential Diagnosis
Ancillary Studies
Final Diagnosis
Take Home Messages
Case 5
Learning Objectives
Case History
Bone Marrow, Biopsy, and Aspirate
Differential Diagnosis
Ancillary Studies
Final Diagnosis
Take Home Messages
Case 6
Learning Objectives
Case History
Bone Marrow, Biopsy, and Aspirate
Differential Diagnosis
Ancillary Studies
Final Diagnosis
Take Home Messages
References
15: Precursor Lymphoid Neoplasms
List of Frequently Asked Questions
Frequently Asked Questions
Case Presentations
Case 1
Learning Objective
Case History
Laboratory Findings
Genetic Study
Final Diagnosis
Discussion
Case 2 (Courtesy of Dr. Peter Papenhausen at LabCorp)
Learning Objective
Case History
Laboratory Findings
Genetic Study
Final Diagnosis
Discussion
Case 3
Learning Objective
Case History
Genetic Study
Final Diagnosis
Follow-Up
Discussion
Case 4
Learning Objective
Case History
Laboratory Findings
Genetic Study
Final Diagnosis
Follow-Up
Discussion
References
16: Mature B-Cell Neoplasms
List of Frequently Asked Questions
Frequently Asked Questions
Cases Presentation
Case 1
Learning Objectives
Case History
Initial Workup
Histologic Findings
Molecular Genetic Study
Final Diagnosis
Follow-Up
Discussion
Case 2
Learning Objectives
Case History
Histologic Findings
Molecular Genetic Study
Final Diagnosis
Follow-Up
Discussion
Case 3
Learning Objectives
Case History
Initial Workup
Histologic Findings
Molecular Genetic Study
Final Diagnosis
Follow-Up
Discussion
References
17: Plasma Cell Neoplasms
List of Frequently Asked Questions
Frequently Asked Questions
Case Presentations
Case 1
Learning Objective(s)
Case History
Laboratory and Morphology Findings
Imaging Studies
Genetic Study
Final Diagnosis
Discussion
Case 2
Learning Objectives
Case History
Laboratory and Morphology Findings
Imaging Studies
Genetic Studies
Final Diagnosis
Follow-Up
Discussion
Case 3
Learning Objective(s)
Case History
Laboratory and Morphologic Findings
Imaging Studies
Genetic Studies
Final Diagnosis
Follow-Up
Discussion
Case 4
Learning Objectives
Case History
Laboratory and Morphology Findings
Genetic Studies
Final Diagnosis
Follow-Up
Discussion
Case 5
Learning Objectives
Case History
Laboratory and Morphology Findings
Genetic Studies
Final Diagnosis
Follow-Up
Discussion
References
18: Mature T- and NK-Cell Neoplasms
List of Frequently Asked Questions
Frequently Asked Questions
Case Presentations
Case 1
Learning Objective
Case History
Histologic Features
Laboratory Findings
Molecular Genetic Studies
Final Diagnosis
Follow-Up
Discussion
Case 2
Case History
Histologic Features
Laboratory Findings
Molecular Genetic Study
Final Diagnosis
Follow-Up
Discussion
Case 3
Learning Objective
Case History
Histologic Features
Laboratory Findings
Molecular Genetic Studies
Final Diagnosis
Follow-Up
Discussion
Case 4
Case History
Histologic Features
Laboratory Findings
Molecular Genetic Studies
Final Diagnosis
Follow-Up
Discussion
Case 5
Case History
Histologic Features
Laboratory Findings
Molecular Genetic Studies
Final Diagnosis
Discussion
References
19: Histiocytic and Dendritic Cell Neoplasms
List of Frequently Asked Questions
Frequently Asked Questions
Case Presentations
Case #1
Learning Objectives
Case History
Morphologic and Immunophenotypic Features
Molecular Studies
Diagnosis
Discussion
Case #2
Learning Objectives
Case History
Morphologic and Immunophenotypic Features
Molecular and Genetic Studies
Diagnosis
Discussion
Case #3
Learning Objectives
Case History
Clinical Imaging Studies
Morphologic and Immunophenotypic Features
Molecular and Genetic Studies
Diagnosis
Discussion
Case #4
Learning Objectives
Case History
Morphologic and Immunophenotypic Features
Diagnosis
Discussion
Case #5
Learning Objectives
Case History
Morphologic and Immunophenotypic Features
Final Diagnosis
Discussion
Case #6
Learning Objectives
Case History
Morphologic and Immunophenotypic Features
Diagnosis
Discussion
Case #7
Learning Objectives
Case History
Morphologic and Immunophenotypic Features
Molecular and Genetic Studies
Diagnosis
Discussion
References
20: Bone Marrow Engraftment Analysis
List of Frequently Asked Questions
Frequently Asked Questions
Case Presentations
Case 1
Learning Objective
Case History
Laboratory Findings
Final Diagnosis
Follow-Up
Discussion
Case 2
Learning Objective
Case History
Laboratory Testing
Discussion
Case 3
Learning Objective
Case History
Laboratory Findings
Genetic Study
Final Diagnosis
Discussion
References
Index
