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Table of Contents
Intro
Preface
About the Editor
Contents
Chapter 1: The Psychosocial Impact of Familial Endocrine Cancer Syndromes (FECS) on the Patient and Caregiver
Introduction
Psychosocial Impact of Living with a Familial Endocrine Cancer Syndrome on Patients and Their Caregivers
Multiple Endocrine Neoplasia (MEN)
Multiple Endocrine Neoplasia, Type 1 (MEN1)
Multiple Endocrine Neoplasia, Type 2 (MEN2)
Von Hippel-Lindau Disease (VHL)
SDH-Related Paraganglioma and Pheochromocytoma Syndrome
Genetic Testing Experiences
Data from Adolescents At-Risk of Li-Fraumeni Syndrome (LFS)
Multiple Endocrine Neoplasia (MEN)
Von Hippel-Lindau Disease (VHL)
SDH-Related Paraganglioma and Pheochromocytoma Syndrome
Experiences of Surveillance
Reproductive Considerations
Impact of Carrier Status on Reproductive Considerations
Awareness and Acceptability of Reproductive Options
Ethical Issues That Arise in Genetic Counseling of Familial Endocrine Cancer Syndromes in Pediatrics and Adolescents
Review of Guidelines and Framework
The Case of Jane Smith
General Discussion
References
Chapter 2: Transitions of Care Models
Introduction
Current State of Transition of Care
Transition of Care Models
Health Care Provider (HCP)-Based Models
Primary Care Provider (PCP)-Led Model
Specialized Care-Led Model
Shared-Care Model
Navigator-Based Model
Intervention-Based Model
Got Transition
Towards a New Transition of Care Model
Conclusion
References
Chapter 3: Genomic Endocrinology, Genome Sequencing, and Applications in Genetic Testing
Introduction
Genetics in Pediatric and Adolescent Clinical Practice and Next-Generation Sequencing Applications
Genome Versus Exome Sequencing, Variant Interpretation, Other Challenges
NGS and Cell-Free (cf)DNA in Cancer Medicine and Prenatal Testing
NGS, Mosaicism and Its Applications in Detecting Somatic Genetic Defects
References
Chapter 4: Familial Endocrine Cancer Syndromes with Pediatric and Adolescent Presentation
Introduction
Syndromes with Prominent Endocrine Presentations
Multiple Endocrine Neoplasia, Type 1
Background and Prevalence
Clinical Characteristics
Multiple Endocrine Neoplasia, Type 2
Background and Prevalence
Clinical Characteristics
Multiple Endocrine Neoplasia, Type 4
Background and Prevalence
Clinical Characteristics
von Hippel-Lindau Syndrome
Background and Prevalence
Clinical Characteristics
Conclusion
References
Chapter 5: Familial Thyroid Cancer Syndromes in Children and Adolescents
Introduction
Syndromic FNMTC
PTEN Hamartoma Tumor Syndrome (PHTS)
Genetic Background
Epidemiology
Clinical Presentation in Children and Adolescents
PHTS-Associated Thyroid Cancer Management
Preface
About the Editor
Contents
Chapter 1: The Psychosocial Impact of Familial Endocrine Cancer Syndromes (FECS) on the Patient and Caregiver
Introduction
Psychosocial Impact of Living with a Familial Endocrine Cancer Syndrome on Patients and Their Caregivers
Multiple Endocrine Neoplasia (MEN)
Multiple Endocrine Neoplasia, Type 1 (MEN1)
Multiple Endocrine Neoplasia, Type 2 (MEN2)
Von Hippel-Lindau Disease (VHL)
SDH-Related Paraganglioma and Pheochromocytoma Syndrome
Genetic Testing Experiences
Data from Adolescents At-Risk of Li-Fraumeni Syndrome (LFS)
Multiple Endocrine Neoplasia (MEN)
Von Hippel-Lindau Disease (VHL)
SDH-Related Paraganglioma and Pheochromocytoma Syndrome
Experiences of Surveillance
Reproductive Considerations
Impact of Carrier Status on Reproductive Considerations
Awareness and Acceptability of Reproductive Options
Ethical Issues That Arise in Genetic Counseling of Familial Endocrine Cancer Syndromes in Pediatrics and Adolescents
Review of Guidelines and Framework
The Case of Jane Smith
General Discussion
References
Chapter 2: Transitions of Care Models
Introduction
Current State of Transition of Care
Transition of Care Models
Health Care Provider (HCP)-Based Models
Primary Care Provider (PCP)-Led Model
Specialized Care-Led Model
Shared-Care Model
Navigator-Based Model
Intervention-Based Model
Got Transition
Towards a New Transition of Care Model
Conclusion
References
Chapter 3: Genomic Endocrinology, Genome Sequencing, and Applications in Genetic Testing
Introduction
Genetics in Pediatric and Adolescent Clinical Practice and Next-Generation Sequencing Applications
Genome Versus Exome Sequencing, Variant Interpretation, Other Challenges
NGS and Cell-Free (cf)DNA in Cancer Medicine and Prenatal Testing
NGS, Mosaicism and Its Applications in Detecting Somatic Genetic Defects
References
Chapter 4: Familial Endocrine Cancer Syndromes with Pediatric and Adolescent Presentation
Introduction
Syndromes with Prominent Endocrine Presentations
Multiple Endocrine Neoplasia, Type 1
Background and Prevalence
Clinical Characteristics
Multiple Endocrine Neoplasia, Type 2
Background and Prevalence
Clinical Characteristics
Multiple Endocrine Neoplasia, Type 4
Background and Prevalence
Clinical Characteristics
von Hippel-Lindau Syndrome
Background and Prevalence
Clinical Characteristics
Conclusion
References
Chapter 5: Familial Thyroid Cancer Syndromes in Children and Adolescents
Introduction
Syndromic FNMTC
PTEN Hamartoma Tumor Syndrome (PHTS)
Genetic Background
Epidemiology
Clinical Presentation in Children and Adolescents
PHTS-Associated Thyroid Cancer Management