Description
In these times, a book should aspire to present the most significant advances in the field, reflect the themes of the moment, and provide a useful compendium for future reference. This book accomplishes all three objectives by discussing the changing world of modern genetics in endocrine tumors and its impact on clinical practice. Clinicians have to incorporate modern genetics and systems biology in their daily practice. Educators and researchers have to introduce molecular pathways and their genetic variability in their teaching, as well as understanding of classic physiology and pathophysiology.Taking these aspects into account, the chapters in this book cover both the classic multiple endocrine neoplasia (MEN) syndromes, as well as newly described ones, such as Carney triad and Carney-Stratakis syndrome. Furthermore, the genetics of paragangliomas as well as thyroid, parathyroid, and pituitary tumors are examined. Outlining the latest research and its obvious implications for our understanding the genetics of endocrine tumor formation and molecular biology of cancer and their potential therapeutic implications, this book is not only useful for researchers but even more so for practicing clinicians, in particular internists, endocrinologists, oncologists, pediatricians, surgeons, pathologists, geneticists, and genetic counselors.
Chapter
Multiple Endocrine Neoplasia Type 1
Clinical Characteristics of MEN1
Menin Expression and Function
Menin Interaction with JUND
Menin Interaction with the MLL Complex
3D Crystal Structure of Menin
Multiple Endocrine Neoplasia Type 2
Structure and Function of RET
RET Gene and Practice Recommendations
Summary of Current Optimal Therapeutic Practices for MTC
Treatment of MTC with Tyrosine Kinase Inhibitors
Pheochromocytomas in MEN2 Syndromes
Evaluation and Treatment of Pheochromocytoma
Screening for Pheochromocytoma
Primary Hyperparathyroidism
von Hippel-Lindau Syndrome
Retinal and CNS Hemangioblastoma
Clear Cell Renal Cell Carcinoma and Renal Cysts
Pheochromocytoma/Paraganglioma
Pancreatic Neuroendocrine Tumor and Pancreatic Cyst
Diagnosis and Clinical Manifestations
Multiple Endocrine Neoplasia Type 4
Phenotypic Features of Patients Carrying CDKN1B Germline Mutations
The CDKN1B Tumor Susceptibility Gene
CDKN1B Germline Mutations in Patients with a MEN1-Like Phenotype (MEN4)
CDKN1B Germline Mutations in Endocrine Disease
Function of the p27 Protein
Functional Effects of p27 Mutations
Novel Hereditary Forms ofPheochromocytomas and Paragangliomas
SDH -Related Mutations and Familial Paraganglioma Syndromes
Overlapping Signals in Pheochromocytoma/Paraganglioma
Sporadic Pheochromocytoma/Paraganglioma
Challenges and Future Perspectives
The Next Case Reported in 1981
Nomenclature of the Gastric and Pulmonary Tumors
Extra-Adrenal Paraganglioma
Unusual Features of the Carney Triad
Genetics of Pituitary Adenomas
Familial Isolated Pituitary Adenomas
AIP Function, Mutations and Animal Models
GNAS Mutations and McCune-Albright Syndrome
Somatic Alterations in Pituitary Adenomas
MicroRNAs in Pituitary Adenomas
Clinical Behavior and Genetics of Nonsyndromic, Familial Nonmedullary Thyroid Cancer
Clinical Behavior and Definition of FNMTC
Genetic Defects Associated with Familialand Sporadic Hyperparathyroidism
Primary Hyperparathyroidism
Multiple Endocrine Neoplasia Type 1
Multiple Endocrine Neoplasia Type 2A
Multiple Endocrine Neoplasia Type 4
Hyperparathyroidism-Jaw Tumor Syndrome
Parafibromin/CDC73 in Parathyroid Carcinoma
Familial Hypocalciuric Hypercalcemia
Neonatal Severe Hyperparathyroidism
Familial Isolated Hyperparathyroidism
Cyclin D1 Oncogene and Parathyroid Neoplasia
Other Aspects of Parathyroid Tumorigenesis
Endocrine Tumors Associated withNeurofibromatosis Type 1, Peutz-JeghersSyndrome and Other Familial NeoplasiaSyndromes
Beckwith-Wiedemann Syndrome
Tuberous Sclerosis Complex
PTEN Hamartoma Tumor Syndrome
APC -Associated Polyposis