Additional Information
Book Details
Abstract
Get a quick, expert overview of the many key facets of pediatric cancer genetics with this concise, practical resource by Dr. Nathaniel H. Robin and Meagan Farmer, MS, CGC, MBA. Ideal for pediatric oncologists and all providers who care for children, this easy-to-read reference addresses the remarkable potential of genetic testing as well as the complexities of choosing the correct test, understanding the results, and counseling the family.
- Features a wealth of information on pediatric cancer genetics, including the epidemiology and biology of cancer and the genetic evaluation process and role of genetic counselors.
- Highlights examples of syndromes that present in childhood and increase susceptibility to cancer.
- Discusses the genetic evaluation process in context of the multidisciplinary care of children with cancer.
- Considers the ethical and legal issues of genetic testing in children and provides illustrative case examples.
- Consolidates today’s available information and guidance in this timely area into one convenient resource.
Table of Contents
| Section Title | Page | Action | Price |
|---|---|---|---|
| Front Cover | Cover | ||
| Pediatric Cancer Genetics | i | ||
| Pediatric Cancer Genetics | iii | ||
| Copyright | iv | ||
| List of Contributors | v | ||
| Preface | vii | ||
| REFERENCES | viii | ||
| FURTHER READING | viii | ||
| Contents | ix | ||
| 1 - Epidemiology of Childhood Cancer | 1 | ||
| INTRODUCTION | 1 | ||
| PEDIATRIC CANCER INCIDENCE BY AGE AND CANCER TYPE | 1 | ||
| PEDIATRIC CANCER INCIDENCE BY GENDER | 3 | ||
| PEDIATRIC CANCER INCIDENCE BY RACE/ETHNICITY | 5 | ||
| TRENDS IN PEDIATRIC CANCER INCIDENCE OVER TIME | 5 | ||
| MORTALITY RATES FOR CHILDHOOD AND ADOLESCENT CANCER | 7 | ||
| SURVIVAL RATES FOR CHILDHOOD AND ADOLESCENT CANCER | 8 | ||
| CHILDHOOD CANCER SURVIVORSHIP | 10 | ||
| RISK FACTORS FOR PEDIATRIC MALIGNANCY | 11 | ||
| ENVIRONMENTAL/EXTRINSIC RISK FACTORS | 12 | ||
| Chemotherapy | 12 | ||
| Ionizing Radiation | 12 | ||
| Other Environmental/Extrinsic Exposures | 13 | ||
| INTRINSIC RISK FACTORS | 14 | ||
| GENETIC RISK FACTORS | 16 | ||
| REFERENCES | 18 | ||
| 2 - The Genetic Evaluation of a Child With Cancer | 21 | ||
| INTRODUCTION | 21 | ||
| THE BENEFITS OF MAKING A GENETIC DIAGNOSIS | 21 | ||
| INDICATIONS FOR A GENETICS REFERRAL | 22 | ||
| The Child With Multiple Anomalies | 22 | ||
| The Patient With Developmental Delay | 23 | ||
| THE GENETICS EVALUATION | 23 | ||
| PERSONAL AND FAMILY HISTORY | 23 | ||
| ISOLATED VERSUS SYNDROMIC | 24 | ||
| THE GENETICS PHYSICAL EXAMINATION | 24 | ||
| THE SIGNIFICANCE OF MINOR ANOMALIES | 27 | ||
| HOW TO IDENTIFY A GENETIC SYNDROME/MAKE A DIAGNOSIS | 28 | ||
| REEVALUATION AND FOLLOW-UP | 30 | ||
| REFERENCES | 31 | ||
| FURTHER READING | 31 | ||
| 3 - Genetic Counseling | 33 | ||
| INTRODUCTION TO GENETIC COUNSELING | 33 | ||
| ELEMENTS OF GENETIC COUNSELING SESSIONS | 34 | ||
| MEDICAL HISTORY | 34 | ||
| FAMILY HISTORY | 34 | ||
| RISK ASSESSMENT | 35 | ||
| DISCUSSION OF GENETIC TESTING | 35 | ||
| INFORMED CONSENT FOR GENETIC TESTING | 36 | ||
| RESULT DISCLOSURE | 36 | ||
| PSYCHOSOCIAL ASSESSMENT AND SUPPORT | 37 | ||
| REFERRAL INDICATIONS FOR GENETIC COUNSELING | 37 | ||
| REFERENCES | 38 | ||
| 4 - Cancer Genetics and Biology | 41 | ||
| GENETICS OF TUMOR INITIATION AND PROGRESSION—DEFINING THE GENOMIC LANDSCAPE OF PEDIATRIC TUMORS | 41 | ||
| BIOLOGIC HALLMARKS OF CANCER DEVELOPMENT | 42 | ||
| Sustaining Abnormal Proliferation | 42 | ||
| Circumventing Growth Suppressors | 43 | ||
| Resisting Cell Death | 43 | ||
| Enabling Replicative Immortality | 44 | ||
| Inducing Angiogenesis | 44 | ||
| Activating Invasion and Metastasis | 44 | ||
| THE ROLE OF THE TUMOR MICROENVIRONMENT | 45 | ||
| FUTURE DIRECTIONS | 46 | ||
| REFERENCES | 46 | ||
| 5 - Genetic Testing Techniques | 47 | ||
| INTRODUCTION | 47 | ||
| SOMATIC VERSUS GERMLINE GENETIC VARIATION | 47 | ||
| CYTOGENETIC VERSUS MOLECULAR GENETIC TESTING | 47 | ||
| CLASSIFICATION OF GENETIC VARIATION | 49 | ||
| CYTOGENETIC ANALYSIS | 49 | ||
| Types of variants detected | 49 | ||
| Benefits | 51 | ||
| Limitations | 51 | ||
| Types of variants detected | 52 | ||
| Benefits | 52 | ||
| Limitations | 52 | ||
| Types of variants detected | 53 | ||
| Benefits | 53 | ||
| Limitations | 54 | ||
| 6 - Genetic Syndromes With an Associated Cancer Risk | 65 | ||
| INTRODUCTION | 65 | ||
| DYSMORPHIC FEATURES AND MULTIPLE CONGENITAL ANOMALIES | 66 | ||
| Trisomy 21 | 66 | ||
| ABNORMALITIES OF GROWTH | 68 | ||
| Fanconi Anemia | 68 | ||
| Beckwith-Wiedemann Syndrome | 69 | ||
| DERMATOLOGIC ABNORMALITIES | 70 | ||
| Neurofibromatosis26 | 70 | ||
| Xeroderma Pigmentosum | 71 | ||
| INBORN DISORDERS OF METABOLISM | 72 | ||
| INCIDENTAL DETECTION OF GENETIC CANCER PREDISPOSITION | 72 | ||
| REFERENCES | 74 | ||
| 7 - Cancer Syndromes That Present in Childhood | 77 | ||
| INTRODUCTION | 77 | ||
| CONSTITUTIONAL MISMATCH REPAIR DEFICIENCY | 77 | ||
| DICER1 SYNDROME | 78 | ||
| FAMILIAL ADENOMATOUS POLYPOSIS | 78 | ||
| FAMILIAL NEUROBLASTOMA | 79 | ||
| HEREDITARY PARAGANGLIOMA-PHEOCHROMOCYTOMA SYNDROMES | 80 | ||
| HERITABLE RETINOBLASTOMA | 81 | ||
| JUVENILE POLYPOSIS SYNDROME | 81 | ||
| LI-FRAUMENI SYNDROME | 82 | ||
| MULTIPLE ENDOCRINE NEOPLASIA TYPE 1 | 83 | ||
| MULTIPLE ENDOCRINE NEOPLASIA TYPE 2 | 84 | ||
| NEUROFIBROMATOSIS TYPE 2 | 84 | ||
| PEUTZ-JEGHERS SYNDROME | 85 | ||
| PTEN HAMARTOMA TUMOR SYNDROME | 86 | ||
| RHABDOID TUMOR PREDISPOSITION SYNDROME 1 | 87 | ||
| VON HIPPEL-LINDAU SYNDROME | 87 | ||
| REFERENCES | 88 | ||
| 8 - Ethical and Legal Issues | 93 | ||
| INTRODUCTION | 93 | ||
| BIOETHICAL PRINCIPLES | 93 | ||
| RIGHT TO KNOW/DUTY TO KNOW | 94 | ||
| RIGHT NOT TO KNOW | 94 | ||
| DUTY TO WARN | 94 | ||
| GENETIC EXCEPTIONALISM | 95 | ||
| LEGAL PROTECTION OF GENETIC INFORMATION | 96 | ||
| THE SPECIAL SITUATION OF GENETIC TESTING OF CHILDREN | 97 | ||
| BIOETHICAL REASONING | 97 | ||
| CASE EXAMPLES | 98 | ||
| Case 1 | 98 | ||
| Case 2A | 99 | ||
| Case 2B | 99 | ||
| REFERENCES | 100 | ||
| 9 - Multidisciplinary Care of the Pediatric Cancer Patient | 101 | ||
| MEDICAL THERAPIES FOR PEDIATRIC CANCER | 101 | ||
| Chemotherapy | 101 | ||
| Immunotherapy | 103 | ||
| Radiation Therapy | 104 | ||
| Surgery | 104 | ||
| PSYCHOSOCIAL CARE DELIVERY | 105 | ||
| Phases of Cancer Treatment and Psychosocial Services | 105 | ||
| Diagnosis and initial treatment | 105 | ||
| Managing the shock of diagnosis | 105 | ||
| Managing disruptions in daily life | 106 | ||
| Communicating about the diagnosis | 106 | ||
| Information and decision-making | 106 | ||
| Dealing with child/teen’s physical changes and psychologic reactions | 107 | ||
| Sibling reactions | 107 | ||
| Maintaining and accessing social support | 107 | ||
| Remission | 107 | ||
| Adjustment and impact on family | 107 | ||
| Completing Treatment and Survivorship | 108 | ||
| Ambivalent feelings | 108 | ||
| Medical late effects | 108 | ||
| Disease Recurrence and Death | 108 | ||
| ROLE OF PALLIATIVE CARE THROUGHOUT TREATMENT | 108 | ||
| REFERENCES | 111 | ||
| 10 - Case Examples | 115 | ||
| Index | 121 | ||
| A | 121 | ||
| B | 121 | ||
| C | 121 | ||
| D | 121 | ||
| E | 121 | ||
| F | 121 | ||
| G | 122 | ||
| H | 122 | ||
| I | 122 | ||
| J | 122 | ||
| K | 122 | ||
| L | 123 | ||
| M | 123 | ||
| N | 123 | ||
| O | 123 | ||
| P | 123 | ||
| R | 123 | ||
| S | 123 | ||
| T | 123 | ||
| V | 123 | ||
| W | 123 | ||
| X | 123 |