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Endocrine Tumor Syndromes and Their Genetics

Author: Constantine A. Stratakis

Publisher: Karger Medical and Scientific Publishers

Published: 2013

Total Pages: 202

ISBN-13: 3318023302

From classic MEN syndromes to various germline and somatic mutations in sporadic tumors 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.

Genetic Disorders of Endocrine Neoplasia

Author: Patricia L. M. Dahia

Publisher: Karger Medical and Scientific Publishers

Published: 2001-01-01

Total Pages: 226

ISBN-13: 3805572034

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The genetics of endocrine cancers is clearly an area where new scientific discoveries that have occurred in the past few years have already been translated into clinical practice. This volume attempts to provide a state-of-the-art review of some of the most relevant inherited syndromes that share a higher susceptibility to the development of endocrine tumors. It focuses on familial tumor syndromes for which the primary gene defect has been well characterized or recently identified. An overview of cloning strategies and gene characterization in cancer is combined with detailed discussions of clinical aspects and molecular features of heritable endocrine neoplastic diseases, such as MEN 1 and MEN 2 and Von Hippel-Lindau Disease. Studies on the PTEN gene, the first known phosphatase to lead to cancer when disrupted, are discussed in detail. Also included is the recent identification and partial characterization of one of at least two genes for Carney Complex, PRKARIA. The authors place special emphasis on testing and screening strategies which now allow a much earlier identification of family members at risk. The challenge for the 21st century will be to develop equal progress in pharmacological prevention and cure based on the knowledge of the function of these susceptibility genes and their targets.

Genetics of Endocrine Diseases and Syndromes

Author: Peter Igaz

Publisher: Springer Nature

Published: 2019-10-06

Total Pages: 476

ISBN-13: 3030259056

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This book provides a comprehensive overview of the genetic basis underlying endocrine diseases. It covers both the molecular and clinical consequences of these genetic defects, as well as the relevance for clinical care, highlighting issues of genetic counseling. Several endocrine diseases have a genetic background, and contemporary research in the field plays a crucial role in the clinical care of endocrine diseases. In recent years, there have been major developments in our understanding of the genetic basis of endocrine diseases. Several novel genes and mutations predisposing individuals to monogenic endocrine diseases have been discovered, and with the advent of next generation sequencing, a huge amount of new data has become available. Further, novel molecular mechanisms, such as genomic imprinting, have been implicated in the pathogenesis of endocrine diseases. A better understanding of the genetic background of these diseases is relevant not only from the research perspective, but also in terms of clinical care. As such, this book is an essential read for both researchers and clinicians working in the field.

Hot Topics in Endocrine and Endocrine-Related Diseases

Author: Monica Fedele

Publisher: BoD – Books on Demand

Published: 2013-05-08

Total Pages: 278

ISBN-13: 9535110802

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This book covers a selected number of hot topics in endocrine and hormone-related pathologies, discussed by eminent scientists and clinicians coming from different countries of the world. It deals with advanced recent trends in the field, including neuroendocrine and pituitary tumors, thyroid dysfunctions, diabetes and a series of endocrine-related diseases, such as those related to the anabolic effects of testosterone, obesity, cancer, the liver complications of diabetes and the pediatric nonalcoholic fatty liver disease. The readers should be able to have a basic, as well as critic and advanced, overview of these selected hot pathologies of the endocrine system.

Genetic Diagnosis of Endocrine Disorders

Author: Roy E. Weiss

Publisher: Academic Press

Published: 2015-10-09

Total Pages: 472

ISBN-13: 0128011343

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Genetic Diagnosis of Endocrine Disorders, Second Edition provides users with a comprehensive reference that is organized by endocrine grouping (i.e., thyroid, pancreas, parathyroid, pituitary, adrenal, and reproductive and bone), discussing the genetic and molecular basis for the diagnosis of various disorders. The book emphasizes the practical nature of diagnosing a disease, including which tests should be done for the diagnosis of diabetes mellitus in adults and children, which genes should be evaluated for subjects with congenital hypothyroidism, which genetic tests should be ordered in obese patients or for those with parathyroid carcinoma, and the rationale behind testing for multiple endocrine neoplasias. Offers a clear presentations of pharmacogenetics and the actual assays used in detecting endocrine diseases Teaches the essentials of the genetic basis of disease in each major endocrine organ system Offers expert advice from genetic counselors on how to use genetic information in counseling patients Includes new chapters on the genetics of lipid disorders and glycogen storage diseases, genetics of hypoglycemia, and whole genome/exome sequencing

Familial Endocrine Cancer Syndromes

Author: Fady Hannah-Shmouni

Publisher: Springer

Published: 2023-11-10

Total Pages: 0

ISBN-13: 9783031372742

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This book is composed of 13 informative chapters written by world-renowned healthcare providers and researchers in the fields of endocrinology, pharmacy, radiology, infertility, pediatrics, internal medicine, psychology and genetics. From topics covering psychosocial impacts to pharmacokinetic and homecare resources, the intent of this book is to provide guiding principles for a safe and informative transition of care for pediatric and adolescent patients with various familial endocrine cancer syndromes that are transitioning from pediatric to adult health care. It provides an in-depth exploration of the diagnostic and therapeutic strategies, survivorship navigation intervention, patient, caregiver and primary care provider challenges, and multidisciplinary care plans for conditions such as MEN1, MEN2 and other familial and genetic endocrine neoplasias. Familial Endocrine Cancer Syndromes: Navigating the Transition of Care for Pediatric and Adolescent Patients is a much-needed resource, as the literature currently lacks a comprehensive publication to facilitate pediatric patients’ transition to adult clinics and resources following endocrine cancer diagnosis and treatment.

Pathology and Genetics of Tumours of Endocrine Organs

Author: Ronald A. DeLellis

Publisher: IARC

Published: 2004

Total Pages: 324

ISBN-13: 9789283224167

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This vol. was produced in collaboration with the International Academy of Pathology (IAP). - This publication reflects the views of a working group that convened for an editorial and consensus conference in Lyon, France, April 23-26, 2003

Endocrine Tumor Syndromes and Their Genetics

Author: C.A. Stratakis

Publisher: Karger Medical and Scientific Publishers

Published: 2013-03-20

Total Pages: 202

ISBN-13: 3318023310

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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.

Diagnostic Pathology: Familial Cancer Syndromes

Author: Vania Nosé

Publisher: Elsevier Health Sciences

Published: 2020-02-14

Total Pages: 897

ISBN-13: 0323712053

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This expert volume in the Diagnostic Pathology series is an excellent point-of-care resource for practitioners at all levels of experience and training. Physicians should have the knowledge derived from morphological findings to identify the likelihood of a cancer patient having an additional underlying familial syndrome— and to decide if that patient should undergo molecular genetic evaluation. This volume is specifically designed to help pathologists, oncologists, and other physicians who diagnose and treat cancer to recognize syndromes and syndrome- associated neoplasms and advise patients and their families on the possibility of a familial syndrome and their risk of developing other tumors. Diagnostic Pathology: Familial Cancer Syndromes, second edition, is an easy-to-use, one-stop reference for information on hereditary cancer syndromes, including differential diagnosis and management, that offers a templated, highly formatted design; concise, bulleted text; and superior color images throughout. Contains all the information necessary to determine whether a neoplasm typically encountered in daily practice is sporadic or related to a familial cancer syndrome Features a revised structure to keep you up to date: Part I includes more than 80 detailed chapters describing diagnoses associated with familial cancer syndromes; Part II contains more than 70 chapters with detailed descriptions of major syndromes (cross-referenced with diagnoses); and Part III features a molecular factors index that includes a complete description of each known gene associated with a familial cancer syndrome Contains updated chapters with newly classified GI, neurology, multiple organ, eye, endocrine, GYN, and kidney tumors, as well as more than 20 entirely new chapters covering recently recognized syndromes Incorporates up-to-date molecular findings and their significance for familial cancer syndromes; new techniques and technologies being used to discover gene mutations and other alterations; and details on personalized medicine targeted to specific genes Features more than 2,200 images throughout, including clinical and radiological images, algorithms, graphics, gross pathology, histology, and a wide range of special and immunohistochemical stains—all carefully annotated to highlight the most diagnostically significant factors Features time-saving bulleted text, key facts in each chapter, an extensive index, and numerous tables for quick reference and thorough understanding

Pheochromocytoma (PHEO) and Paraganglioma (PGL)

Author: Karel Pacak

Publisher: MDPI

Published: 2019-11-20

Total Pages: 380

ISBN-13: 3039216546

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This book outlines some new advances in genetics, clinical evaluation, localization, therapy (newly including immunotherapy) of pheochromocytoma and paraganglioma including their metastatic counterparts. Well-known and experienced clinicians and scientists contributed to this book to include some novel approaches to these tumors. This book will serve to various health care professionals from different subspecialties, but mainly oncologists, endocrinologists, endocrine surgeons, pediatricians, and radiologists. This book shows that the field of pheochromocytoma/paraganglioma is evolving and a significant progress has been made in last 5 years requiring that health care professionals and scientists will learns new information and implement it in their clinical practice or scientific work, respectively. This book should not be missed by anybody who is focusing on neuroendocrine tumors, their newest evaluation and treatment.