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Book Details
Abstract
This volume in the Foundations in Diagnostic Pathology Series packs today's most essential cell and tissue base molecular pathology into a compact, high-yield format! It focuses on the state of the art in practical validated molecular diagnostics as applied across the fields of surgical pathology and cytology. With an emphasis on current, clinically valid, and diagnostically important applications today and in the near future, you can be assured you’re getting the most up-to-date, authoritative coverage available. Its pragmatic, well-organized approach, nearly 250 full-color illustrations, and at-a-glance boxes and tables make the information you need easy to access. Practical and affordable, this resource is ideal for study and review as well as everyday clinical practice!
- Offers detailed discussions on today’s technologies to help you select the best test for case evaluation.
- Presents recognized molecular pathologists who convey the most current information, keeping you on the cusp of your field.
- Features nearly 250 full-color illustrations that present important pathologic features, enabling you to form a differential diagnosis and compare your findings with actual cases.
- Uses a consistent, user-friendly format, including at-a-glance boxes and tables for easy reference.
Table of Contents
| Section Title | Page | Action | Price |
|---|---|---|---|
| Front cover | Cover | ||
| Cell and Tissue Based Molecular Pathology | iii | ||
| Copyright page | iv | ||
| Contributors | v | ||
| Foreword | vii | ||
| Preface | viii | ||
| Table of Contents | ix | ||
| SECTION I. MOLECULAR PRINCIPLES | 1 | ||
| Chapter 1. Molecular Biology Basics for the Pathologist | 3 | ||
| INTRODUCTION | 3 | ||
| THE HUMAN GENOME | 3 | ||
| GENE STRUCTURE AND FUNCTION | 4 | ||
| Chapter 2. Quality Assurance of Molecular Assays | 10 | ||
| INTRODUCTION | 10 | ||
| DEVELOPMENT OF QUALITY ASSURANCE STANDARDS | 10 | ||
| EXAMPLES OF SPECIFIC QUALITY ASSURANCE GUIDELINES FOR TISSUE-BASED MOLECULAR ASSAYS | 12 | ||
| POLYMERASE CHAIN REACTION CONTAINMENT | 14 | ||
| CONCLUSION | 16 | ||
| SECTION II. MOLECULAR TOOLS AND TECHNIQUES | 17 | ||
| Chapter 3. Overview of Molecular Diagnostic Techniques and Instrumentation | 19 | ||
| INTRODUCTION | 19 | ||
| GENERAL METHODOLOGIES | 19 | ||
| SPECIFIC METHODOLOGIES | 22 | ||
| POLYMERASE CHAIN REACTION VARIATIONS | 24 | ||
| IN VITRO NUCLEIC ACID AMPLIFICATION ALTERNATIVES TO POLYMERASE CHAIN REACTION | 28 | ||
| SIGNAL AMPLIFICATION TECHNOLOGIES | 29 | ||
| Chapter 4. Conventional and Real-Time Polymerase Chain Reaction | 33 | ||
| INTRODUCTION | 33 | ||
| PRINCIPLES OF POLYMERASE CHAIN REACTION | 33 | ||
| REAL-TIME POLYMERASE CHAIN REACTION: COMBINING AMPLIFICATION WITH DETECTION | 41 | ||
| APPLICATIONS | 45 | ||
| CONCLUSION | 48 | ||
| Chapter 5. Loss of Heterozygosity | 50 | ||
| PRINCIPLES OF LOSS OF HETEROZYGOSITY | 50 | ||
| CONCLUSION | 54 | ||
| Chapter 6. Direct Genome Sequencing in Diagnostic Pathology | 56 | ||
| INTRODUCTION | 56 | ||
| BASIS OF DIRECT DNA SEQUENCING FOR MOLECULAR DIAGNOSTICS | 56 | ||
| BASICS OF DNA SEQUENCING | 56 | ||
| DNA SEQUENCING BY CHAIN TERMINATION | 57 | ||
| RECENT DEVELOPMENTS IN DNA SEQUENCING | 60 | ||
| CONCLUSION | 61 | ||
| Chapter 7. Array-based Comparative Genomic Hybridization in the Analysis of Genomic Alterations in Human Disease | 63 | ||
| INTRODUCTION | 63 | ||
| CLASSICAL CYTOGENETICS AND METAPHASE-BASED COMPARATIVE GENOMIC HYBRIDIZATION | 63 | ||
| BACTERIAL ARTIFICIAL CHROMOSOME ARRAYS AND OTHER ALTERNATIVES | 64 | ||
| CHALLENGES AND LIMITATIONS OF ARRAY-BASED COMPARATIVE GENOMIC HYBRIDIZATION | 65 | ||
| NONONCOLOGIC APPLICATIONS OF ARRAY-BASED COMPARATIVE GENOMIC HYBRIDIZATION | 66 | ||
| FLUORESCENCE IN SITU HYBRIDIZATION IN VALIDATION OF ARRAY-BASED COMPARATIVE GENOMIC HYBRIDIZATION DISCOVERIES | 66 | ||
| CONCLUSION | 67 | ||
| Chapter 8. Expression Arrays: Discovery and Validation | 70 | ||
| INTRODUCTION | 70 | ||
| MICROARRAY PLATFORMS | 70 | ||
| PROCEDURES | 73 | ||
| DATA PROCESSING | 76 | ||
| UNSUPERVISED ANALYSIS | 77 | ||
| SUPERVISED ANALYSIS | 78 | ||
| EXPRESSION SIGNATURES | 79 | ||
| VALIDATION | 81 | ||
| CONCLUSION | 82 | ||
| Chapter 9. Epigenetics: DNA Hypermethylation in Cancer | 84 | ||
| INTRODUCTION | 84 | ||
| EPIGENETIC CONTROL OF GENE EXPRESSION IN NORMAL CELLS | 84 | ||
| PROTEINS THAT REGULATE DNA METHYLATION | 85 | ||
| DNA METHYLATION, CHROMATIN STRUCTURE, AND GENE EXPRESSION | 86 | ||
| DNA METHYLATION IN CANCER | 86 | ||
| DNA METHYLATION AS A MOLECULAR BIOMARKER IN CANCER DETECTION | 87 | ||
| THE EPIGENOME AS A TARGET FOR CANCER CHEMOPREVENTION AND TREATMENT | 88 | ||
| DNA METHYLATION AS A PROGNOSTIC OR PREDICTIVE BIOMARKER FOR CANCER | 88 | ||
| DNA METHYLATION ANALYSIS TECHNIQUES AND CLINICAL APPLICATIONS | 89 | ||
| CONCLUSION | 90 | ||
| Chapter 10. Tissue Microarrays | 91 | ||
| INTRODUCTION | 91 | ||
| PRINCIPLES OF THE TECHNIQUE | 91 | ||
| CONCLUSION | 101 | ||
| Chapter 11. Fluorescence In Situ Hybridization | 104 | ||
| PRINCIPLES OF TECHNIQUE | 104 | ||
| ADVANTAGES | 106 | ||
| DISADVANTAGES | 106 | ||
| APPLICATIONS | 107 | ||
| CONCLUSION | 112 | ||
| Chapter 12. Bright-Field In Situ Hybridization | 114 | ||
| INTRODUCTION | 114 | ||
| BASIC PRINCIPLES OF IN SITU HYBRIDIZATION | 114 | ||
| SIGNAL-ENHANCED DETECTION | 119 | ||
| APPLICATIONS OF IN SITU HYBRIDIZATION | 120 | ||
| CONCLUSION | 124 | ||
| Chapter 13. Immunoglobulin and T-Cell Receptor Gene Rearrangement | 127 | ||
| INTRODUCTION | 127 | ||
| TISSUE REQUIREMENTS AND NUCLEIC ACID EXTRACTION | 127 | ||
| PRINCIPLES OF CLONALITY | 127 | ||
| CONCLUSION | 134 | ||
| Chapter 14. Monitoring of Minimal Residual Hematologic Disease | 135 | ||
| INTRODUCTION | 135 | ||
| REAL-TIME Q-PCR DETECTION METHODS | 136 | ||
| CURRENT STATUS AND STANDARDIZATION OF BCR/ABL MONITORING | 142 | ||
| CONCLUSION | 143 | ||
| Chapter 15. Molecular Detection of Circulating Tumor Cells | 145 | ||
| INTRODUCTION | 145 | ||
| PRINCIPLES OF THE TECHNIQUE | 145 | ||
| ADVANTAGES AND DISADVANTAGES | 149 | ||
| APPLICATIONS | 149 | ||
| CONCLUSION | 150 | ||
| Chapter 16. Intraoperative Molecular Staging Using Real-Time Polymerase Chain Reaction | 153 | ||
| INTRODUCTION | 153 | ||
| PRINCIPLES OF THE TECHNIQUE | 153 | ||
| COMPONENTS OF A RAPID ASSAY | 154 | ||
| BREAST CANCER SENTINEL LYMPH NODE ANALYSIS | 158 | ||
| MELANOMA SENTINEL LYMPH NODE ANALYSIS | 160 | ||
| ANALYSIS OF SENTINEL LYMPH NODES IN HEAD AND NECK CANCER | 161 | ||
| INTRAOPERATIVE LYMPH NODE ANALYSIS IN OTHER TUMOR TYPES | 161 | ||
| ADDITIONAL APPLICATION POSSIBILITIES | 162 | ||
| CONCLUSION | 162 | ||
| SECTION III. DIAGNOSTIC MOLECULAR PATHOLOGY APPLICATIONS | 165 | ||
| Chapter 17. Molecular Cytopathology | 167 | ||
| INTRODUCTION | 167 | ||
| GYNECOLOGIC CYTOPATHOLOGY | 167 | ||
| THYROID CYTOPATHOLOGY | 176 | ||
| URINARY CYTOPATHOLOGY | 178 | ||
| CONCLUSION | 179 | ||
| Chapter 18. Molecular Diagnosis of Infectious Agents in Tissue | 181 | ||
| INTRODUCTION | 181 | ||
| HUMAN PAPILLOMAVIRUS | 182 | ||
| HERPES VIRUSES | 183 | ||
| BACTERIAL AND MYCOBACTERIAL INFECTIONS | 186 | ||
| FUNGAL INFECTIONS | 190 | ||
| CURRENT AND FUTURE TRENDS | 191 | ||
| Chapter 19. Molecular Neuropathology | 195 | ||
| INTRODUCTION | 195 | ||
| VASCULAR DISEASE | 195 | ||
| BRAIN TUMORS | 196 | ||
| INFECTIONS | 201 | ||
| PHAKOMATOSES | 203 | ||
| NEURODEGENERATIVE DISEASE | 203 | ||
| METABOLIC DISEASE | 206 | ||
| NEUROMUSCULAR DISORDERS | 206 | ||
| Chapter 20. Molecular Pathology of the Cardiovascular System | 214 | ||
| INTRODUCTION | 214 | ||
| CARDIOMYOPATHIES | 214 | ||
| INHERITED ARRHYTHMOGENIC SYNDROMES | 226 | ||
| HERITABLE DISORDERS OF THE BLOOD VESSELS | 230 | ||
| CONGENITAL HEART DISEASES | 233 | ||
| VIRAL MYOCARDITIS | 236 | ||
| CONCLUSION AND FUTURE DIRECTIONS | 238 | ||
| Chapter 21. Molecular Pulmonary Pathology | 241 | ||
| INTRODUCTION | 241 | ||
| LUNG CANCER | 242 | ||
| DIFFUSE PARENCHYMAL DISEASES OF THE LUNG: LYMPHANGIOLEIOMYOMATOSIS | 246 | ||
| Chapter 22. Molecular Dermatopathology | 249 | ||
| INTRODUCTION | 249 | ||
| MELANOCYTIC NEOPLASIA | 249 | ||
| SEBACEOUS NEOPLASIA AND THE MUIR-TORRE SYNDROME | 253 | ||
| OTHER SKIN ADNEXAL TUMORS | 255 | ||
| MESENCHYMAL TUMORS: DERMATOFIBROSARCOMA PROTUBERANS | 256 | ||
| HEMATOPOIETIC MALIGNANCIES | 256 | ||
| CUTANEOUS INFECTIONS | 260 | ||
| SUMMARY | 265 | ||
| CONCLUSION | 265 | ||
| Chapter 23. Molecular Gastrointestinal, Liver, and Pancreatic Pathology | 269 | ||
| INTRODUCTION | 269 | ||
| COLON | 269 | ||
| STOMACH | 281 | ||
| ESOPHAGUS: BARRETT’S ESOPHAGUS | 286 | ||
| SMALL BOWEL | 286 | ||
| PANCREAS | 287 | ||
| LIVER | 288 | ||
| Chapter 24. Molecular Endocrine Pathology | 296 | ||
| INTRODUCTION | 296 | ||
| THYROID | 296 | ||
| PARATHYROID | 300 | ||
| ADRENAL GLAND | 302 | ||
| CONCLUSION | 303 | ||
| Chapter 25. Molecular Hematopathology | 305 | ||
| INTRODUCTION | 305 | ||
| CHRONIC MYELOID LEUKEMIA | 305 | ||
| PHILADELPHIA CHROMOSOME NEGATIVE MYELOPROLIFERATIVE NEOPLASMS | 308 | ||
| MYELOID NEOPLASMS ASSOCIATED WITH EOSINOPHILIA AND ABNORMALITIES OF PDGFRA, PDGFRB OR FGFR1 | 310 | ||
| MYELODYSPLASTIC SYNDROMES AND MYELODYSPLASTIC–MYELOPROLIFERATIVE OVERLAP DISORDERS | 311 | ||
| ACUTE MYELOID LEUKEMIA | 311 | ||
| CONGENITAL BONE MARROW FAILURE SYNDROMES | 315 | ||
| CLONALITY ASSAYS IN LYMPHOPROLIFERATIVE DISORDERS | 315 | ||
| PRECURSOR B-CELL ACUTE LYMPHOBLASTIC LEUKEMIA/LYMPHOMA | 315 | ||
| PRECURSOR T-CELL ACUTE LYMPHOBLASTIC LEUKEMIA/LYMPHOMA | 316 | ||
| B-CELL LYMPHOPROLIFERATIVE DISORDERS | 317 | ||
| PLASMA CELL NEOPLASMS | 320 | ||
| T-CELL LYMPHOPROLIFERATIVE DISORDERS | 321 | ||
| HODGKIN’S LYMPHOMA | 322 | ||
| CONCLUSION | 323 | ||
| Chapter 26. Molecular Pathology of Bone and Soft Tissue Tumors | 325 | ||
| INTRODUCTION | 325 | ||
| BONE AND SOFT TISSUE TUMORS WITH COMPLEX CYTOGENETIC FEATURES | 325 | ||
| BONE AND SOFT TISSUE TUMORS WITH SIMPLE CYTOGENETIC FEATURES | 329 | ||
| Chapter 27. Molecular Pathology of Breast Cancer | 360 | ||
| INTRODUCTION | 360 | ||
| ASSESSMENT OF BREAST CANCER | 360 | ||
| CONCLUSION | 376 | ||
| Chapter 28. Molecular Genitourinary Pathology | 379 | ||
| INTRODUCTION | 379 | ||
| KIDNEY | 379 | ||
| UROTHELIAL TRACT | 384 | ||
| PROSTATE | 386 | ||
| TESTICLE | 390 | ||
| CONCLUSION | 390 | ||
| Chapter 29. Molecular Gynecologic Pathology | 393 | ||
| INTRODUCTION | 393 | ||
| CERVICAL CARCINOMA | 393 | ||
| ENDOMETRIAL CARCINOMA | 396 | ||
| EPITHELIAL OVARIAN AND FALLOPIAN TUBE CARCINOMA | 401 | ||
| CONCLUSION | 409 | ||
| Chapter 30. Pediatric Molecular Pathology | 411 | ||
| INTRODUCTION | 411 | ||
| NEUROBLASTOMA | 411 | ||
| CHILDHOOD RENAL TUMORS | 415 | ||
| RHABDOMYOSARCOMA | 418 | ||
| THE EWING FAMILY OF TUMORS | 419 | ||
| DESMOPLASTIC SMALL ROUND CELL TUMOR | 423 | ||
| HEPATOBLASTOMA | 423 | ||
| INFANTILE FIBROSARCOMA | 424 | ||
| RETINOBLASTOMA | 425 | ||
| CONCLUSION | 427 | ||
| Index | 431 |