Cancer: Principles and Practice of Oncology Primer of Molecular Biology in Cancer
Höfundar:
Vincent T. DeVita; Theodore S. Lawrence; Steven A. Rosenberg (Útgáfa: 3)
Kaup valmöguleikar
Recent scientific advances have revolutionized cancer research and practice, creating a body of molecular biology information that is important to research scientists and clinical oncologists alike. Cancer: Principles and Practice of Oncology: Primer of the Molecular Biology of Cancer, 3rd Edition, keeps you up to date with all that’s new in this rapidly changing field. Derived from DeVita, Hellman, and Rosenberg’s Cancer: Principles and Practice of Oncology – widely regarded as the definitive clinical reference in oncology – the third edition of this popular Primer provides a single-volume, highly focused reference on every important frontier in the molecular biology of cancer.
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- Wolters Kluwer Health
- 9781975149147
- 9781975149116
- ePub
- 3
- Vincent T. DeVita; Theodore S. Lawrence; Steven A. Rosenberg
- English
- 2020-01-22
- 10
- 2
- 2
Kaflar
- Contributors
- PART I: Principles of Molecular Oncology
- 1. The Cancer Genome
- Yardena Samuels, Alberto Bardelli, Yochai Wolf, and Carlos López-Otin
- Introduction
- Cancer Genes and Their Mutations
- Identification of Cancer Genes
- Cancer Gene Discovery by Sequencing Candidate Gene Families
- Mutational Analysis of Exomes Using Sanger Sequencing
- Next-Generation Sequencing and Cancer Genome Analysis
- Whole-Genome Analysis Utilizing Second-Generation Sequencing
- Whole-Exome Analysis Utilizing Second-Generation Sequencing
- Somatic Alteration Classes Detected by Cancer Genome Analysis
- Pathway-Oriented Models of Cancer Genome Analysis
- Passenger and Driver Mutations
- Networks of Cancer Genome Projects
- The Genomic Landscape of Cancers
- Single-Cell Genomics
- Integrative Analysis of Cancer Genomics
- Immunogenomics
- The Cancer Genome and the New Taxonomy of Tumors
- Liquid Biopsies as a Diagnosis Tool
- Clinical Applications of Liquid Biopsies
- Cancer Genomics and Drug Resistance
- Perspectives of Cancer Genome Analysis
- Acknowledgments
- 2. Molecular Methods in Cancer
- Larissa V. Furtado, Jay L. Hess, and Bryan L. Betz
- Applications of Molecular Diagnostics in Oncology
- Biomarker Genetics
- Use of Biomarkers in Diagnosis
- Use of Biomarkers in Prognosis
- Use of Biomarkers in Predicting Response to Therapy
- Use of Biomarkers in Therapeutic Disease Monitoring
- Use of Biomarkers in Risk Assessment and Cancer Prevention
- The Clinical Molecular Diagnostics Laboratory: Rules and Regulations
- Specimen Requirements for Molecular Diagnostics
- Molecular Diagnostics Testing Process
- Targeted Mutation Analysis Methods
- Polymerase Chain Reaction
- Real-time Polymerase Chain Reaction
- Reverse-Transcription Polymerase Chain Reaction
- Allele-Specific Polymerase Chain Reaction
- Fragment Analysis
- Sanger Sequencing
- Pyrosequencing
- Methylation Analysis
- Microsatellite Instability Analysis/Assessment of Mismatch Repair Deficiency
- Fluorescence In Situ Hybridization
- Whole-Genome Analysis Methods
- Next-Generation Sequencing
- Genomic Microarrays
- Expression Panels
- Immunohistochemistry for Tumor Biomarkers
- PD-L1
- ALK and ROS1
- BRAFV600E
- Cell-Free DNA Technologies
- 3. Hallmarks of Cancer: An Organizing Principle for Cancer Medicine
- Douglas Hanahan and Robert A. Weinberg
- Introduction
- Hallmark Capabilities, In Essence
- Sustaining Proliferative Signaling
- Somatic Mutations Activate Additional Downstream Pathways
- Disruptions of Negative-Feedback Mechanisms that Attenuate Proliferative Signaling
- Excessive Proliferative Signaling Can Trigger Cell Senescence
- Evading Growth Suppressors
- Mechanisms of Contact Inhibition and Its Evasion
- Corruption of the Transforming Growth Factor β Pathway Promotes Malignancy
- Resisting Cell Death
- Autophagy Mediates Both Tumor Cell Survival and Death
- Necrosis Has Proinflammatory and Tumor-Promoting Potential
- Enabling Replicative Immortality
- Reassessing Replicative Senescence
- Delayed Activation of Telomerase May Both Limit and Foster Neoplastic Progression
- Inducing Angiogenesis
- Gradations of the Angiogenic Switch
- Endogenous Angiogenesis Inhibitors Present Natural Barriers to Tumor Angiogenesis
- Pericytes Are Important Components of the Tumor Neovasculature
- A Variety of Bone Marrow–Derived Cells Contribute to Tumor Angiogenesis
- Activating Invasion and Metastasis
- The Epithelial-to-Mesenchymal Transition Program Broadly Regulates Invasion and Metastasis
- Heterotypic Contributions of Stromal Cells to Invasion and Metastasis
- Plasticity in the Invasive Growth Program
- Distinct Forms of Invasion May Underlie Different Cancer Types
- The Daunting Complexity of Metastatic Colonization
- Reprogramming Energy Metabolism
- Evading Immune Destruction
- Two Ubiquitous Characteristics Facilitate the Acquisition of Hallmark Capabilities
- An Enabling Characteristic: Genome Instability and Mutation
- An Enabling Characteristic: Tumor-Promoting Inflammation
- The Constituent Cell Types of the Tumor Microenvironment
- Cancer-Associated Fibroblasts
- Endothelial Cells
- Pericytes
- Immune Inflammatory Cells
- Stem and Progenitor Cells of the Tumor Stroma
- Heterotypic Signaling Orchestrates the Cells of the Tumor Microenvironment
- Coevolution of the Tumor Microenvironment During Carcinogenesis
- Cancer Cells, Cancer Stem Cells, and Intratumoral Heterogeneity
- Therapeutic Targeting of the Hallmarks of Cancer
- Conclusion and a Vision for the Future
- Acknowledgment
- 4. Oncogenic Viruses
- Christopher B. Buck, Lee Ratner, and Giovanna Tosato
- Principles of Tumor Virology
- Papillomaviruses
- History
- Tissue Tropism and Gene Functions
- Human Papillomavirus Vaccines
- Oropharyngeal Cancer
- Nonmelanoma Skin Cancer
- Bladder Cancer
- Polyomaviruses
- History
- BK Polyomavirus
- Merkel Cell Polyomavirus
- Other Human Polyomaviruses
- Epstein-Barr Virus
- History
- Epstein-Barr Virus Life Cycle
- Lymphomas
- Carcinomas
- Prevention and Treatment
- Kaposi Sarcoma Herpesvirus
- History and Epidemiology
- Kaposi Sarcoma–Associated Herpesvirus in Kaposi Sarcoma
- Lymphoproliferative Disorders
- Animal and Human Retroviruses
- Human T-Cell Leukemia Virus Epidemiology
- Human T-Cell Leukemia Virus Molecular Biology
- Clinical Characteristics and Treatment of Human T-lymphotropic Virus 1–Associated Malignancies
- Hepatitis Viruses
- Hepatitis B Virus
- Hepatitis C Virus
- Hepatitis Virus Pathogenesis
- Clinical Characteristics and Treatment of Hepatitis Virus–Associated Malignancies
- Conclusion
- 5. DNA Repair in Normal and Cancer Cells
- Meredith A. Morgan and Theodore S. Lawrence
- Introduction
- Radiation-Induced DNA Damage
- Cellular Responses to Radiation-Induced DNA Damage
- Cell Cycle Checkpoint Pathways
- DNA Repair
- Metabolism
- Innate Immune Response
- Chromosome Aberrations Result from Faulty DNA Double-Strand Break Repair
- Membrane Signaling
- The Effect of Radiation on Cell Survival
- In Vivo Survival Determination of Normal Tissue Response to Radiation
- In Vivo Determination of Tumor Response to Radiation
- Factors That Affect Radiation Response
- The Fundamental Principles of Radiobiology
- Dose-Rate Effects
- Relative Biologic Effectiveness
- Stereotactic Radiosurgery and Stereotactic Body Radiation Therapy
- Cell Cycle
- Tumor Oxygenation
- Immune Response
- Genetic Signatures
- Drugs That Affect Radiation Sensitivity
- Antimetabolites
- Platinums and Temozolomide
- Taxanes
- Molecularly Targeted Agents
- Immunotherapy
- Radiation Protection
- 6. Microbiome and Cancer
- Giorgio Trinchieri
- Introduction
- Cancer as a Disease of the Metaorganism
- Bacteria as Cause of Cancer
- Helicobacter pylori and Stomach Cancer
- Colorectal Cancer
- Tumors in Tissues Not Directly Colonized by the Microbiota
- The Microbiota Modulates Cancer-Predisposing Conditions and Comorbidity
- Bacteria as Cancer Drugs
- Microbiota and Drug Metabolism
- Microbiota and Chemotherapy
- Microbiota and Immunotherapy
- Immune Checkpoint Blockers: Anti-CTLA-4
- Immune Checkpoint Blockers: Anti-PD-1/PD-L1
- Looking Forward
- 7. Precision Medicine in Oncology
- James H. Doroshow
- Introduction
- Approach to Precision Medicine in Oncology
- Next-Generation DNA Sequencing for Precision Oncology
- Broadening the Spectrum of Molecular Characterization
- Preclinical Models to Inform Precision Oncology
- Role of Molecular Pharmacodynamics and Diagnostics in Precision Oncology
- Human Biospecimens for Molecular Characterization
- Molecular Pharmacodynamics in Precision Oncology
- Predictive Diagnostic Assays
- Precision Oncology Clinical Trials and Trial Designs
- Imaging and Precision Oncology
- Precision Prevention
- Future Prospects
- 8. Cancer Immunotherapy
- Jeffrey Weber and Iulia Giuroiu
- Introduction
- Interferon-α
- Interleukin-2
- Talimogene Laherparepvec
- Granulocyte Macrophage Colony-Stimulating Factor
- Tumor-Infiltrating Lymphocytes
- Checkpoint Inhibitors—Cytotoxic T-Lymphocyte Antigen 4 and Programmed Cell Death Protein 1
- Cytotoxic T-Lymphocyte Antigen 4 Blockade
- Programmed Cell Death Protein 1 and Programmed Cell Death Protein Ligand 1 Blockade
- Melanoma
- Non–small-cell Lung Cancer
- Mismatch-Repair Deficient or Microsatellite Instability-High Cancers
- Renal Cell Carcinoma
- Hodgkin Lymphoma
- Head and Neck Squamous Cell Carcinoma
- Urothelial Carcinoma
- Merkel Cell Carcinoma
- Hepatocellular Carcinoma
- Gastric Cancer
- Cervical Cancer
- Primary Mediastinal Large B-Cell Lymphoma
- Dosing
- Vaccines
- Sipuleucel-T
- Conclusion
- 9. Immunotherapy Agents
- Jeffrey A. Sosman and Douglas B. Johnson
- Introduction
- Human Tumor Antigens
- Mutanome-Associated Neoantigens
- Tumor Vaccines
- Personalized Neoantigen Vaccination
- Immune Checkpoint Inhibitors
- Other Immune Checkpoint Inhibitors in Development
- Anti-TIGIT
- TIM-3
- LAG-3
- KIR
- CD73
- VISTA
- B7-H3
- Immune Checkpoint Activators
- 4-1BB (CD137)
- GITR
- ICOS
- CD40
- CD27-CD70
- OX40
- Oncolytic Viruses
- Talimogene Laherparepvec
- Other Oncolytic Viruses
- Factors to Activate Immune Effector Cells
- Cytokines
- IL-2 Variant Molecules
- Signaling Modulation
- STAT3 Inhibition
- PI3Kδ Inhibitors
- PI3Kγ Inhibitors
- Chemokine Inhibitors
- CXCR2 Inhibitors
- CCR2 Inhibitors
- CXCR4 Inhibitors
- CCR4 Antibodies
- CCR5 Inhibitors
- Soluble Factors
- IDO Inhibition
- Arginase Inhibitor
- TGF-β Kinase Inhibitors
- Adenosine A2α Receptor Axis
- Adenosine Receptor Inhibitors
- Innate Immune Modulation
- Pathogen-Associated Molecular Patterns, Damage-Associated Molecular Patterns, and Pattern Recognition Receptors
- Toll-Like Receptor Modulators
- STING Agonists
- Anti-CD47 Monoclonal Antibodies
- Colony-Stimulating Factor 1 Receptor Inhibition
- Bifunctional Fusion Proteins
- Immunocytokines
- Adoptive Cell Therapy
- Chimeric Antigen Receptor T-Cell Therapy
- 10. Monoclonal Antibodies
- Hossein Borghaei, Matthew K. Robinson, Gregory P. Adams, and Louis M. Weiner
- Introduction
- Immunoglobulin Structure
- Structural and Functional Domains
- Modified Antibody-Based Molecules
- Factors Regulating Antibody-Based Tumor Targeting
- Antibody Size
- Tumor Antigens
- Half-Life/Clearance Rate
- Glycosylation
- Unconjugated Antibodies
- Cell-Mediated Cytotoxicity
- Complement-Dependent Cytotoxicity
- Altering Signal Transduction
- Immunoconjugates
- Antibody–Drug Conjugates
- Radioimmunoconjugates
- Antibodies Approved for Use in Solid Tumors
- Trastuzumab
- Pertuzumab
- Cetuximab
- Panitumumab
- Necitumumab
- Bevacizumab
- Ado-Trastuzumab Emtansine
- Ramucirumab
- Denosumab
- Antibodies Used in Hematologic Malignancies
- Rituximab
- ofatumumab
- Alemtuzumab
- Brentuximab Vedotin
- Inotuzumab Ozogamicin
- Obinutuzumab
- Blinatumomab
- Daratumumab
- Elotuzumab
- Dinutuximab
- Olaratumab
- Conclusion
- 11. Cancer Susceptibility Syndromes
- Alice Hawley Berger and Pier Paolo Pandolfi
- Introduction
- Principles of Cancer Susceptibility
- The “Two-Hit” Paradigm
- What Is the Function of a Tumor Suppressor?
- Haploinsufficiency and Compound Haploinsufficiency
- Genetic Testing
- Cancer Susceptibility Syndromes
- Retinoblastoma
- Incidence
- Genetic Basis
- Molecular Mechanism
- Mouse Models
- Clinical Features and Therapeutic Intervention
- Most Prevalent Syndromes
- Lynch Syndrome
- Hereditary Breast and Ovarian Cancer
- Neurofibromatosis Type 1
- Familial Adenomatous Polyposis
- Other Syndromes, by Function
- Genomic Integrity and Apoptosis
- Regulation of Protein Translation
- Proliferation
- Angiogenesis
- Principles of Cancer Chemoprevention
- Emerging Knowledge and New Lessons
- Germline Mutations in Sporadic Cancer
- Weak Modifiers
- Epigenetic Factors
- Role of Noncoding RNAs
- The Regulatory Genome
- High-Throughput Methods for Understanding Cancer Variants
- Conclusion
- 12. Pharmacogenomics
- Christine M. Walko and Howard L. McLeod
- Introduction
- Pharmacogenomics of Tumor Response
- Pathway-Directed Anticancer Therapy
- Genetic-Guided Therapy: Practical Issues in Somatic Analysis
- Pharmacogenomics of Chemotherapy Drug Toxicity
- Thiopurine Methyltransferase
- Dihydropyrimidine Dehydrogenase
- Conclusions and Future Directions
- 13. Genetic Counseling
- Danielle C. Bonadies, Meagan B. Farmer, and Ellen T. Matloff
- Introduction
- Who is a Candidate for Cancer Genetic Counseling?
- Components of the Cancer Genetic Counseling Session
- Precounseling Information
- Family History
- Dysmorphology Screening
- Risk Assessment
- Genetic Testing
- Options for Surveillance, Risk Reduction, and Tailored Treatment
- Follow-up
- Issues in Cancer Genetic Counseling
- Genetic Test Selection and Approaches
- Management of the Patient with a Pathogenic Variant in a Moderate-Risk or Lesser Known Gene
- Genetic Testing in Children
- Reproductive Issues
- Potential Germline Implications of Tumor Genomic Profiling
- Changes in Delivery Models
- Direct-to-Consumer Genetic Testing
- Psychosocial Issues
- Confidentiality
- Insurance and Discrimination Issues
- Future Directions
- Whole-Genome Sequencing and Whole-Exome Sequencing
- General Population Testing
- CRISPR
- Conclusion
- PART II: Molecular Biology of Individual Cancers
- 14. The Molecular Biology of Head and Neck Cancers
- Thomas E. Carey, Mark E. Prince, and J. Chad Brenner
- Incidence, Risk Factors, and Etiology
- Oral Tongue Cancer in Young Patients
- High-Risk Hpv in Oropharyngeal Cancer
- Molecular Mechanisms in Hnscc
- The Cancer Genome Atlas Project
- Inhibition of Hnscc Immune Escape
- Cancer Stem Cells
- 15. The Molecular Biology of Lung Cancer
- Jill E. Larsen and John D. Minna
- Introduction
- Genomics: Tools for Identification, Prediction, and Prognosis
- Somatic Landscape of Lung Cancer
- Characterization of Aberrant Pathways
- Transcriptome Profiling
- Proteomic Approaches
- Lessons Learned and Future Directions
- Functional Genomics in Lung Cancer
- Genome-wide RNA-Based and shRNA-Based Screening
- CRISPR-Cas9 Gene Editing
- Preclinical Model Systems for Studying Lung Cancer
- Genetic and Epigenetic Alterations in Lung Cancer
- EGFR/HER2/MET Signaling
- EGFR
- ERBB2 (HER2)
- MET
- RAS/RAF/MAPK Pathway
- RAS
- RAF
- MEK (MAP2K1 or MEK1)
- MYC
- Pl3K/AKT/mTOR Pathway
- STK11 (LKB1)
- Insulin Growth Factor Pathway
- Fibroblast Growth Factor Pathway
- The p53 Pathway
- The p16INK4a-RB Pathway
- Fusion Proteins
- ALK
- ROS1
- RET
- NTRK
- BRAF
- EGFR
- Epigenetic Changes in Lung Carcinogenesis
- Methylation and Chromatin Remodeling
- Noncoding RNAs
- NFIB, a Metastasis-Inducing Transcription Factor
- KDM Lysine Demethylases (JumonjiC) as an Epigenomic Drug Resistance Mechanism
- Metastasis and the Tumor Microenvironment
- Epithelial-to-Mesenchymal Transition
- Angiogenesis
- Immune Checkpoint Inhibition
- Exosomes as a Source of Information on Tumor Molecular Alterations
- Lung Cancers Stem Cells
- Telomerase-Mediated Cellular Immortality in Lung Cancer
- Clinical Translation of Molecular Data
- Current Translation of Rationale-based Targeted Therapy
- Potential for Future Clinical Translation
- 16. Molecular Biology of the Esophagus and Stomach
- Anil K. Rustgi
- Introduction
- Molecular Biology of Esophageal Cancer
- Epidermal Growth Factor Receptor
- Cyclin D1 and p16INK4a
- TP53 Tumor Suppressor Genes
- Telomerase Activation
- Tumor Invasion and Metastasis
- Models of Esophageal Squamous Cell Cancer and Esophageal Adenocarcinoma
- Functional Genomics
- Molecular Biology of Gastric Cancer
- Inherited Susceptibility
- Role of Helicobacter pylori Infection and Other Host–Environmental Factors
- Molecular Genetic Alterations
- Models of Gastric Cancer
- 17. The Molecular Biology of Pancreas Cancer
- Scott E. Kern and Ralph H. Hruban
- Introduction
- Common Genetic Changes in Pancreatic Ductal Adenocarcinoma
- Less-Prevalent Genetic Changes in Pancreatic Ductal Adenocarcinoma
- Other Neoplastic Lesions
- 18. Molecular Biology of Liver Cancer
- Jens U. Marquardt and Snorri S. Thorgeirsson
- Introduction
- Genetic Alterations in Liver Cancer
- Epigenetic Alterations in Liver Cancer
- Mutational Landscape of Genetic Alterations—The Next Generation
- The Microenvironment of Liver Cancer
- Classification and Prognostic Prediction of Hepatocellular Carcinoma
- Molecular Basis of Cholangiocarcinoma
- Conclusion and Perspective
- 19. Molecular Biology of Colorectal Cancer
- Ramesh A. Shivdasani
- Introduction
- Multistep Models of Colorectal Cancer and Genetic Instability
- Mutational and Epigenetic Landscapes in Colorectal Cancer
- Insights from Mouse Intestinal Crypts and Human Colorectal Cancers Lead to a Coherent Model for Colorectal Cancer Initiation and Progression
- WNT Signaling
- Other Growth Factor Pathways
- Inherited Syndromes of Increased Cancer Risk Highlight Early Events and Critical Pathways in Colorectal Tumorigenesis
- Familial Adenomatous Polyposis and the Central Importance of WNT Signaling
- Hereditary Nonpolyposis Colorectal Cancer and the Role of DNA Mismatch Repair
- Other Inherited Syndromes with Elevated Colorectal Cancer Risk
- Familial Juvenile Polyposis
- Insights from Mendelian Syndromes, Genome-Wide Association Studies, and the Microbiome
- Oncogene and Tumor Suppressor Gene Mutations in Colorectal Cancer Progression
- The KRAS, BRAF, and PIK3CA Oncogenes
- MYC, CDK8, and Control of Cell Growth and Metabolism
- TP53 and Other Tumor Suppressors
- Prognostic and Predictive Value of Tumor Genotypes and Molecular Properties
- 20. Molecular Biology of Kidney Cancer
- W. Marston Linehan and Laura S. Schmidt
- Introduction
- Clear Cell Renal Cell Carcinoma
- von Hippel-Lindau Disease
- Genetics of von Hippel-Lindau Disease: VHL Gene
- Gene Mutated in Renal Cancer Families with Chromosome 3p Translocations
- Sporadic Clear Cell Kidney Cancer: VHL Gene Mutation
- Function of the von Hippel-Lindau Protein
- Additional Genes Mutated in Clear Cell Kidney Cancer
- Papillary Renal Cell Carcinoma
- Hereditary Papillary Renal Carcinoma: Type 1 Papillary
- Genetics of Hereditary Papillary Renal Carcinoma: MET Protooncogene
- Hereditary Papillary Renal Carcinoma: Functional Consequences of MET Mutations
- Sporadic Type 1 Papillary Renal Cell Carcinoma
- Xp11.2 Translocation Renal Cell Cancer
- Hereditary Leiomyomatosis and Renal Cell Carcinoma: Type 2 Papillary
- Hereditary Leiomyomatosis and Renal Cell Carcinoma: Fumarate Hydratase Gene
- Functional Consequences of Fumarate Hydratase Mutations
- Sporadic Type 2 Papillary Renal Cell Carcinoma
- Chromophobe Renal Cell Carcinoma
- Birt-Hogg-Dubé Syndrome
- Birt-Hogg-Dubé Syndrome: FLCN Gene
- Function of the Birt-Hogg-Dubé Protein: Folliculin
- Sporadic Chromophobe Renal Cell Carcinoma
- Additional Types of Renal Cell Carcinoma
- Tuberous Sclerosis Complex
- Succinate Dehydrogenase–Associated Renal Cancer
- Conclusion
- 21. Molecular Biology of Bladder Cancer
- Carolyn D. Hurst and Margaret A. Knowles
- Introduction
- Mutational Landscape
- Mutation Rates, Mutational Signatures, and Mutational Processes
- FGFR3, PIK3CA, and RAS Genes
- Telomerase Reverse Transcriptase Promoter
- TP53, RB1, and CDKN2A
- Genes Involved in Chromatin Modification and Architecture
- STAG2
- Alterations in DNA Repair Pathways
- Structural Alterations to the Genome
- Heterogeneity and Clonal Evolution
- Molecular Subtypes
- DNA-Based Subtypes
- Transcriptome-Based Subtypes
- Therapeutic Opportunities and Future Outlook
- 22. The Molecular Biology of Prostate Cancer
- Charles Dai and Nima Sharifi
- Introduction
- The Genomic Landscape of Prostate Cancer
- The Molecular Subtypes of Primary Prostate Cancer
- ETS Family Gene Fusions
- Speckle-Type POZ Protein Mutations
- Forkhead Box A1 Mutations
- Serine Peptidase Inhibitor, Kazal Type 1 Overexpression
- Isocitrate Dehydrogenase 1 Mutations
- The Clonal Evolution of Lethal Metastatic Prostate Cancer
- Genetic Basis of Prostate Cancer Heritability
- Androgen Signaling in Prostate Cancer
- androgen Receptor Structure and Function
- androgen Receptor Action
- Intratumoral androgen Biosynthesis
- Glucocorticoid Signaling in Treatment Resistance
- Other Signaling Pathways in Prostate Cancer
- Phosphatidylinositol 3-Kinase/AKT/Mammalian Target of Rapamycin Pathway
- Other Signaling Pathways in Prostate Cancer
- Cell Cycle Aberrations
- Neuroendocrine Prostate Cancer
- Areas of Ongoing Research and Emerging Therapeutic Approaches
- DNA Repair Pathway
- Epigenetic Alterations
- Conclusion
- 23. Molecular Biology of Gynecologic Cancers
- Tanja Pejovic, Adam J. Krieg, and Kunle Odunsi
- Introduction
- Ovarian Cancer
- Origins of Epithelial Ovarian Cancer
- Molecular Pathways to Ovarian Cancer
- Inherited Syndromes of Ovarian Cancers
- Targeting Homologous Recombination Defects in Gynecologic Cancer
- Ovarian Cancer Microenvironment, Metastases, and Angiogenesis
- Ovarian Cancer Microenvironment
- Angiogenesis and Tumor Hypoxia
- Influences of the Microenvironment on Tumor Metastasis
- Epigenetics
- Role of Specific Immune Responses and Immunotherapy
- Immune Inhibitory Network and Immune Checkpoint Inhibitors in Ovarian Cancer
- Immunotherapy Clinical Trials in Ovarian Cancer
- Adoptive Cellular Transfer Therapy
- Endometrial Cancer
- Type I Cancers
- Type II Endometrial Cancer
- Microsatellite Instability
- PTEN
- KRAS Mutations
- β-Catenin
- Cervix, Vaginal, and Vulvar Cancers
- Role of Human Papillomavirus
- Immune Evasion by Human Papillomavirus
- Human Papillomavirus Vaccines
- Adoptive T-Cell Therapy
- 24. Molecular Biology of Breast Cancer
- Ana T. Nunes, Tara Berman, and Lyndsay Harris
- Introduction
- Genetics of Breast Cancer
- Hereditary Breast Cancer
- High-Penetrance, Low-Frequency Genes
- Moderate-Penetrance, Low-Frequency Genes
- Low-Penetrance, High-Frequency Genes and Loci
- Microsatellite Instability in Breast Cancer
- Somatic Alterations in Breast Cancer
- Copy Number Alterations in Breast Cancer
- Transcriptional Profiles of Breast Cancer—Molecular Subtypes
- Luminal Subtypes
- HER2-Enriched Subtype
- Triple-Negative Subtypes
- Mutational Profiles in Breast Cancer by Molecular Subtype
- Transcriptional Profiles of Breast Cancer—Prognosis and Benefit of Therapy
- 70-Gene Assay (Mammaprint)
- 21-Gene Recurrence Score (Oncotype DX)
- Prediction Analysis of Microarray-50 (PAM50, PAM50 Risk of Recurrence Score, or Prosigna)
- 12-Gene Risk Score (Endopredict)
- Two-Gene Ratio (Breast Cancer Index)
- Epigenetics of Breast Cancer
- Protein/Pathway Alterations
- Estrogen Receptor Pathway
- Growth Factor Receptor Pathways
- Human Epidermal Growth Factor Receptor 2
- RAS and Phosphatidylinositol 3-Kinase Signaling Pathways
- Cyclin-Dependent Kinases
- 25. Molecular Biology of Endocrine Tumors
- Zeyad T. Sahli, Brittany A. Avin, and Martha A. Zeiger
- Endocrine Syndromes
- Multiple Endocrine Neoplasia Type 1
- Clinical Features
- Molecular Genetics of MEN1
- Multiple Endocrine Neoplasia Type 2
- Clinical Features of MEN2A
- Clinical Features of MEN2B
- Molecular Genetics of MEN2
- Multiple Endocrine Neoplasia Type 4
- Carney Complex
- Clinical Features
- Molecular Genetics of Carney Complex
- Adrenal Gland
- Cortisol-Producing Adenomas
- Aldosterone-Producing Adenomas
- Pheochromocytoma
- Adrenocortical Carcinoma
- Parathyroid Gland
- Hyperparathyroidism–Jaw Tumor Syndrome
- Familial Hypocalciuric Hypercalcemia
- Neonatal Severe Hyperparathyroidism
- Autosomal Dominant Hypoparathyroidism
- Familial Isolated Hyperparathyroidism
- Pituitary Gland
- Familial Isolated Pituitary Adenoma
- X-linked Acrogigantism
- McCune-Albright Syndrome
- Paraganglioma, Pheochromocytoma, and Pituitary Adenoma Association
- Dicer1 Syndrome
- Thyroid Gland
- Follicular Adenomas
- Noninvasive Follicular Thyroid Neoplasm with Papillary-Like Nuclear Features
- Papillary Thyroid Cancer
- Follicular Thyroid Cancer
- Hürthle Cell Carcinoma
- Medullary Thyroid Cancer
- Anaplastic Thyroid Cancer
- Werner Syndrome
- Acknowledgments
- 26. Molecular Biology of Sarcomas
- Samuel Singer and Cristina R. Antonescu
- Introduction
- Soft Tissue Sarcomas
- Translocation-Associated Soft Tissue Sarcomas
- Myxoid/Round Cell Liposarcoma
- Ewing Sarcoma
- Desmoplastic Small Round Cell Tumor
- Synovial Sarcoma
- Alveolar Rhabdomyosarcoma
- Alveolar Soft Part Sarcoma
- Dermatofibrosarcoma Protuberans
- Extraskeletal Myxoid Chondrosarcoma
- Solitary Fibrous Tumor and Hemangiopericytoma
- Soft Tissue Sarcomas of Simple Karyotype Associated With Mutations
- Desmoid Fibromatosis
- Complex Soft Tissue Sarcoma Types
- Well-Differentiated and Dedifferentiated Liposarcoma
- Pleomorphic Liposarcoma
- Myxofibrosarcoma and Undifferentiated Pleomorphic Sarcoma (Malignant Fibrous Histiocytoma)
- Myxofibrosarcoma
- Undifferentiated Pleomorphic Sarcoma (Malignant Fibrous Histiocytoma)
- Leiomyosarcoma
- Malignant Peripheral Nerve Sheath Tumor
- Angiosarcoma
- Bone and Cartilaginous Tumors
- Cartilaginous Tumors
- Enchondroma
- Osteochondroma
- Chondrosarcoma
- Osteosarcoma
- Future Directions: Next-Generation Sequencing and Functional Screens
- 27. Molecular Biology of Cutaneous Melanoma
- Michael A. Davies
- Introduction
- The Cancer Genome Atlas Effort in Cutaneous Melanoma
- The Ras-Raf-Mapk Pathway
- RAF Kinases
- RAS Family GTPases
- NF1
- Additional Oncogenic Pathways
- Cell Cycle Regulators
- The p53 Pathway
- The Phosphatidylinositol 3-Kinase Pathway
- Receptor Tyrosine Kinases
- RAC1
- Telomerase
- Triple Wild-Type Melanomas
- Melanin Synthesis Pathway
- MITF
- The MC1R Pathway
- Summary and Future Directions
- 28. Molecular Biology of Central Nervous System Tumors
- Mark W. Youngblood, Jennifer Moliterno Günel, and Murat Günel
- Introduction
- Pediatric Brain Tumors
- Medulloblastoma
- Low-Grade Glioma
- High-Grade Glioma
- Ependymal Tumors
- Adult Brain Tumors
- Low-Grade Glioma
- High-Grade Glioma
- Meningioma
- Summary
- Acknowledgments
- 29. Molecular Biology of Lymphoma
- Nicolò Compagno, Laura Pasqualucci, and Riccardo Dalla-Favera
- Introduction
- The Cell of Origin of Lymphoma
- B-Cell Development and the Dynamics of the Germinal Center Reaction
- T-Cell Development
- General Mechanisms of Genetic Alterations in Lymphoma
- Chromosomal Translocations
- Aberrant Somatic Hypermutation
- Copy Number Gains and Amplifications
- Activating Point Mutations
- Inactivating Mutations and Deletions
- Infectious Agents
- Molecular Pathogenesis of B-Cell Non-Hodgkin Lymphoma
- Mantle Cell Lymphoma
- Cell of Origin
- Genetic Lesions
- Burkitt Lymphoma
- Cell of Origin
- Genetic Lesions
- Follicular Lymphoma
- Cell of Origin
- Genetic Lesions
- Diffuse Large B-Cell Lymphoma
- Cell of Origin
- Genetic Lesions
- Primary Mediastinal B-Cell Lymphoma
- Cell of Origin
- Genetic Lesions
- Marginal Zone Lymphoma
- Cell of Origin
- Genetic Lesions
- Chronic Lymphocytic Leukemia
- Cell of Origin
- Genetic Lesions
- Molecular Pathogenesis of T-Cell Non-Hodgkin Lymphoma
- Adult T-Cell Leukemia/Lymphoma (HTLV-1 Positive)
- Cell of Origin
- Genetic Lesions
- Angioimmunoblastic T-Cell Lymphoma
- Cell of Origin
- Genetic Lesions
- Peripheral T-Cell Lymphoma Not Otherwise Specified
- Genetic Lesions
- Cutaneous T-Cell Lymphoma
- Anaplastic Large-Cell Lymphoma
- Cell of Origin
- Genetic Lesions
- Hepatosplenic T-Cell Lymphoma
- Molecular Pathogenesis of Hodgkin Lymphoma
- Cell of Origin
- Genetic Lesions
- 30. Molecular Biology of Acute Leukemias
- Glen D. Raffel and Jan Cerny
- Introduction
- Leukemic Stem Cell
- Elucidation of Genetic Events in Acute Leukemia
- Mutations Affecting Transcription Factors
- Core-Binding Factor
- Retinoic Acid Receptor Alpha Gene
- HOX Family Members
- C/EBPα
- GATA Factors
- Mutations that Result in Overexpression of c-MYC
- Mutation of Lymphoid Development Factors in Acute Lymphoid Leukemia
- Chromosomal Translocations Involving the T-cell Receptor
- RBM15/MKL1
- Mutations of Epigenetic Modifiers
- KMT2A (aka MLL) Translocations
- MOZ and TIF2
- TET2
- DNMT3A
- ASXL1
- EZH2
- Mutations Affecting Signaling
- Oncogenic RAS Mutations
- Activating Mutations in Tyrosine Kinases and Associated Receptors
- BCR/ABL1
- FLT3
- KIT
- MPL
- JAK/STAT Pathway
- CRLF2
- Kinases in Ph-Negative Acute Lymphoid Leukemia
- Mutations in Tumor Suppressor Genes
- WT1
- TP53
- Activating Mutations of Notch
- Mutations Altering Localization of Npm1
- Mutations in Cohesin Complex Genes
- Mutations in Splicing Machinery
- Mutational Complementation Groups in Acute Leukemias
- Conclusion
- 31. Molecular Biology of Chronic Leukemias
- Christopher A. Eide, James S. Blachly, and Anupriya Agarwal
- Introduction
- Chronic Myeloid Leukemia
- Pathogenesis
- Molecular Anatomy of the BCR-ABL1 Junction
- Functional Domains of BCR-ABL1 and Kinase Activation
- Signal Transduction
- Phosphatidylinositol-3 Kinase
- Rat Sarcoma/Mitogen-Activated Protein Kinase Pathways
- Janus Kinase/Signal Transducer and Activator of Transcription Pathway
- DNA Repair
- Chronic Myeloid Leukemia Stem Cells
- Progression to Blastic Phase
- Chronic Myeloid Leukemia Bone Marrow Microenvironment
- Conclusions
- Chronic Lymphocytic Leukemia
- Origin of Chronic Lymphocytic Leukemia
- Chromosomal Abnormalities in the Pathogenesis of Chronic Lymphocytic Leukemia
- Recurrent Mutations in Chronic Lymphocytic Leukemia
- Progression of Chronic Lymphocytic Leukemia: The Role of Genomic Instability and Clonal Evolution
- Chronic Lymphocytic Leukemia and Proliferation
- Chronic Lymphocytic Leukemia and Disrupted Apoptosis
- B-cell Receptor Signaling in Chronic Lymphocytic Leukemia
- Conclusion
- Acknowledgments
- Index