Endocrine Tumor Syndromes and Their Genetics ( Frontiers of Hormone Research )

Publication series : Frontiers of Hormone Research

Author: Stratakis C.A.  

Publisher: S. Karger AG‎

Publication year: 2013

E-ISBN: 9783318023312

P-ISBN(Paperback): 9783318023305

Subject: R736 Endocrine tumors

Keyword: 医学遗传学,外科学,病理学,肿瘤学,神经病学,内科学,内分泌腺疾病及代谢病

Language: ENG

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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

References

Multiple Endocrine Neoplasia Type 1

Abstract

Clinical Characteristics of MEN1

Genetics of MEN1

Mouse Models of MEN1

Menin-Null Cell Lines

Menin Expression and Function

Menin Interaction with JUND

Menin Interaction with the MLL Complex

3D Crystal Structure of Menin

Conclusions

Acknowledgments

References

Multiple Endocrine Neoplasia Type 2

Abstract

Overview

History

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

Conclusion

References

von Hippel-Lindau Syndrome

Abstract

Historical Perspectives

Molecular Genetics

VHL Protein

Clinical Features

Retinal and CNS Hemangioblastoma

Clear Cell Renal Cell Carcinoma and Renal Cysts

Pheochromocytoma/Paraganglioma

Pancreatic Neuroendocrine Tumor and Pancreatic Cyst

Endolymphatic SAC Tumors

Papillary Cystadenoma

Other Tumors

Screening/Prognosis

Future Directions

Conclusion

References

Carney Complex

Abstract

Diagnosis and Clinical Manifestations

Molecular Genetics

Pathogenesis

Conclusion

References

Multiple Endocrine Neoplasia Type 4

Abstract

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

p27 and Tumorigenesis

Functional Effects of p27 Mutations

Conclusions

Acknowledgments

References

Novel Hereditary Forms ofPheochromocytomas and Paragangliomas

Abstract

SDH -Related Mutations and Familial Paraganglioma Syndromes

TMEM127

MAX

Overlapping Signals in Pheochromocytoma/Paraganglioma

Sporadic Pheochromocytoma/Paraganglioma

Challenges and Future Perspectives

Acknowledgments

References

Note Added in Proof

Carney Triad

Abstract

Definition

Background

Historical

Cases 1–4

Cases 5–7

The Next Case Reported in 1981

Nomenclature of the Gastric and Pulmonary Tumors

Gastric Stromal Sarcoma

Pulmonary Chondroma

Extra-Adrenal Paraganglioma

Follow-Up

Treatment of the Tumors

Unusual Features of the Carney Triad

Differential Diagnosis

Genetics

References

Genetics of Pituitary Adenomas

Abstract

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

Conclusion

References

Clinical Behavior and Genetics of Nonsyndromic, Familial Nonmedullary Thyroid Cancer

Abstract

Clinical Behavior and Definition of FNMTC

Genetics

Conclusion

References

Genetic Defects Associated with Familialand Sporadic Hyperparathyroidism

Abstract

Primary Hyperparathyroidism

Multiple Endocrine Neoplasia Type 1

Menin

Multiple Endocrine Neoplasia Type 2A

Multiple Endocrine Neoplasia Type 4

Hyperparathyroidism-Jaw Tumor Syndrome

Parafibromin/CDC73

Parafibromin/CDC73 in Parathyroid Carcinoma

Familial Hypocalciuric Hypercalcemia

Neonatal Severe Hyperparathyroidism

Calcium-Sensing Receptor

Familial Isolated Hyperparathyroidism

Cyclin D1 Oncogene and Parathyroid Neoplasia

Other Aspects of Parathyroid Tumorigenesis

Conclusions

References

Endocrine Tumors Associated withNeurofibromatosis Type 1, Peutz-JeghersSyndrome and Other Familial NeoplasiaSyndromes

Abstract

Neurofibromatosis Type 1

Peutz-Jeghers Syndrome

Beckwith-Wiedemann Syndrome

Tuberous Sclerosis Complex

Li-Fraumeni Syndrome

PTEN Hamartoma Tumor Syndrome

APC -Associated Polyposis

Conclusion

Acknowledgement

References

Author Index

Subject Index

Cover

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