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  • The Gene: An Intimate History
    La comanda in aproximativ 4 saptamani
    63.00 lei

    Selected as a Book of the Year by The New York Times, The Economist, Independent, Observer and Mail on Sunday

    THE NEW YORK TIMES NUMBER ONE BESTSELLER

    SHORTLISTED FOR THE WELLCOME BOOK PRIZE 2017

    ‘Dramatic and precise… [A] thrilling and comprehensive account of what seems certain to be the most radical, controversial and, to borrow from the subtitle, intimate science of our time… He is a natural storyteller… A page-turner… Read this book and steel yourself for what comes next’
    Bryan Appleyard, Sunday Times

    The Gene is the story of one of the most powerful and dangerous ideas in our history, from bestselling, prize-winning author Siddhartha Mukherjee.

    Spanning the globe and several centuries, The Gene is the story of the quest to decipher the master-code that makes and defines humans, that governs our form and function.

    This is an epic, moving history of a scientific idea coming to life, by the author of The Emperor of All Maladies. But woven through The Gene, like a red line, is also an intimate history – the story of Mukherjee’s own family and its recurring pattern of mental illness, reminding us that genetics is vitally relevant to everyday lives. These concerns reverberate even more urgently today as we learn to “read” and “write” the human genome – unleashing the potential to change the fates and identities of our children.

    The story of the gene begins in an obscure Augustinian abbey in Moravia in 1856 where a monk stumbles on the idea of a ‘unit of heredity’. It intersects with Darwin’s theory of evolution, and collides with the horrors of Nazi eugenics in the 1940s. The gene transforms post-war biology. It reorganizes our understanding of sexuality, temperament, choice and free will. This is a story driven by human ingenuity and obsessive minds – from Charles Darwin and Gregor Mendel to Francis Crick, James Watson and Rosalind Franklin, and the thousands of scientists still working to understand the code of codes.

    Majestic in its ambition, and unflinching in its honesty, The Gene gives us a definitive account of the fundamental unit of heredity – and a vision of both humanity’s past and future.

  • 100.00 lei

    Almost daily we hear news stories, advertisements, and scientific reports that promise genetic medicine will make us live longer, enable doctors to identify and treat diseases before they start, and individualize our medical care. But surprisingly, a century ago eugenicists were making the same promises. The "Science of Human Perfection" traces the history of the promises of medical genetics and of the medical dimension of eugenics. The book also considers social and ethical issues that cast troublesome shadows over these fields. Keeping his focus on America, science historian Nathaniel Comfort introduces the community of scientists, physicians, and public health workers who have contributed to the development of medical genetics from the nineteenth century to today. He argues that medical genetics is closely related to eugenics, and indeed the two cannot be fully understood separately. He also carefully examines how the desire to relieve suffering and to improve ourselves genetically, though noble, may be subverted. History makes clear that as patients and consumers we must take ownership of genetic medicine, using it intelligently, knowledgeably, and sceptically, lest pernicious interests trump our own.

  • 120.00 lei

    PKU (phenylketonuria) is a genetic disorder that causes severe cognitive impairment if it is not detected and treated with a strict and difficult diet. In a lifetime of practice, most physicians will never encounter a single case of PKU, yet every physician in the industrialized world learns about the disease in medical school and, since the early 1960s, the newborn heel stick test for PKU has been mandatory in many countries. Diane B. Paul and Jeffrey P. Brosco's beautifully written book explains this paradox. The development of state programs for early detection of and treatment for PKU is deservedly considered a great public health success story. Advocates have traded on this success to urge expanded newborn screening, to defend basic research in genetics, and to confront proponents of genetic determinism. When deployed for these purposes, treatment for PKU is typically represented as a simple matter of adhering to a low-phenylalanine diet. In reality, the challenges of living with PKU are daunting. In this first general history of PKU, a historian and a pediatrician explore how a rare genetic disease became the object of an unprecedented system for routine testing. "The PKU Paradox" is informed by interviews with scientists, clinicians, policy makers, and individuals who live with the disease. The questions it raises touch on ongoing controversies about newborn screening and what happens to blood samples collected at birth.

  • Story Within. Personal Essays on Genetics and Identity
    La comanda in aproximativ 4 saptamani
    120.00 lei

    In "The Story Within", authors share powerful experiences of living with genetic disorders. Their stories illustrate the complexities involved in making decisions about genetic diseases: whether to be tested, who to tell, whether to have children, and whether and how to treat children medically, if treatment is available. More broadly, they consider how genetic information shapes the ways we see ourselves, the world, and our actions within it. People affected by genetic disease respond to such choices in varied and personal ways. These writers reflect that breadth of response, yet they share the desire to challenge a restricted sense of what "health" is or whose life has value. They write hoping to expand conversations about genetics and identity – to deepen debate and generate questions. Whether they or their families are affected by Huntington's disease, Alzheimer's disease, cancer, genetic deafness or blindness, schizophrenia, cystic fibrosis, Tay-Sachs, hypertrophic cardiomyopathy, fragile X, or Fanconi anemia, their stories remind us that genetic health is complicated, dynamic, and above all, deeply personal.

  • 130.00 lei

    Genetically modified organisms (GMOs) including plants and the foods made from them, are a hot topic of debate today, but soon related technology could go much further and literally change what it means to be human. Scientists are on the verge of being able to create people who are GMOs.

    Should they do it? Could we become a healthier and 'better' species or might eugenics go viral leading to a real, new world of genetic dystopia? GMO Sapiens tackles such questions by taking a fresh look at the cutting-edge biotech discoveries that have made genetically modified people possible.

    Bioengineering, genomics, synthetic biology, and stem cells are changing sci-fi into reality before our eyes. This book will capture your imagination with its clear, approachable writing style. It will draw you into the fascinating discussion of the life-changing science of human genetic modification.

  • Cell Biology by the Numbers
    La comanda in aproximativ 4 saptamani
    220.00 lei

    How much energy is released in ATP hydrolysis? How many mRNAs are in a cell? How genetically similar are two random people? What is faster, transcription or translation? Cell Biology by the Numbers explores these questions―and dozens of others―providing a richly illustrated and handy reference for students and researchers in molecular and cell biology, chemistry, and biophysics. The book features question-driven vignettes and "back of the envelope" calculations that investigate some of the key numbers in cell biology. Readers will learn about the sizes, concentrations, rates, energies, and other numbers that describe and drive the living world.

  • Color Atlas of Genetics
    La comanda in aproximativ 4 saptamani
    26000lei 240.00 lei

    Ever since the International Human Genome Project achieved its extraordinary goal of sequencing and mapping the entire human genome, represented by approximately 3 billion base pairs, with its far-reaching implications for understanding the causes of human genetic disorders and their diagnosis, progress in the field has not slowed down.

    In the fifth edition of the bestselling Color Atlas of Genetics, readers will be rewarded with a complete and current overview of the field, with an emphasis on the interface between fundamental principles and practical applications in medicine and the role of signaling pathways in causing diseases.

    Using the acclaimed Flexibook format designed for easy visual learning and retention, the atlas is invaluable for students, clinicians, and scientists interested in staying up to date in this fast-evolving area.

    New fully illustrated topics in the revised fifth edition of the atlas include:

    • An overview of disorders resulting from structural changes of the genome (genomic disorders)
    • Abnormal imprinting patterns
    • Examples of impaired signal pathways (laminopathies, fibrillinopathies, cohesinopathies, and others)
    • The CRISPR-Cas system
    • Genetic features of the aging processes
    • Disorders due to rearrangements of chromatin in the cell nucleus, and others

    With almost 200 stunning color plates explained by concise texts on the opposite pages, including tables presenting useful data, a glossary of terms, key references, and online resources, the atlas presents clear and accessible concepts. It is an excellent refresher for investigators in any field of medicine or biology.

  • The Human Genome
    La comanda in aproximativ 4 saptamani
    290.00 lei

    The sequencing of the human genome has been hailed as the most ground-breaking scientific event of our time. It will, in equal measure, offer insight into our collective history and our individual identities, and open up untold possibilities for the diagnosis, treatment and prevention of disease. Not since Crick and Watson's discovery of the structure of DNA has a scientific publication been greeted with such fanfare and expectation. In this fascinating and beautifully illustrated account, written and compiled by Carina Dennis and Richard Gallagher of Nature, the genome project is made uniquely accessible for a general readership. It offers an introduction to the basic biology and techniques, a guide to the main players and events in the history of genetic science, and a range of viewpoints on its impact and reception around the world, in addition to the full text of the research paper itself. An indispensable companion to the human genome, this will stand as the definitive reference guide, commemorating one of humankind's greatest achievements.

  • 57000lei 500.00 lei

    Features:

    • Offers pathways for diagnosis, prevention and disease management
    • Includes color images supporting identification, concept illustration and method processing
    • Features contributions by leading international researchers and practitioners of medical genetics

    Description

    Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics: Cardiovascular, Respiratory, and Gastrointestinal Disorders, Seventh Edition includes the latest information on seminal topics such as prenatal diagnosis, genome and exome sequencing, public health genetics, genetic counseling, and management and treatment strategies. This comprehensive, yet practical, resource emphasizes theory and research fundamentals relating to applications of medical genetics across the full spectrum of inherited disorders and applications to medicine. Updated sections in this release cover the genetics of cardiovascular, respiratory and gastrointestinal disorders, with an emphasis on genetic determinants and new pathways for diagnosis, prevention and disease management.

    In addition, genetic researchers, students and health professionals will find new and fully revised chapters on the molecular genetics of congenital heart defects, inherited cardiomyopathies, hypertension, cystic fibrosis, asthma, hereditary pulmonary emphysema, inflammatory bowel disease, and bile pigment metabolism disorders among other conditions.

    Readership

    Students, physicians, and researchers in the field of medical genetics and personalized medicine; medical practitioners and researchers of cardiology, pulmonary medicine, gastrointestinal medicine, and nephrology as well as genetic diagnostics and therapy in these and related disciplines; genetic counselors; genetic researchers in industry and pharma

    Table of Contents

    Section 1
    1. Congenital Heart Defects
    2. Inherited Cardiomyopathies
    3. Heritable and Idiopathic Forms of Pulmonary Arterial Hypertension
    4. Hereditary Hemorrhagic Telangiectasia (Osler–Weber–Rendu Syndrome)
    5. Hereditary Disorders of the Lymphatic System and Varicose Veins
    6. The Genetics of Cardiac Electrophysiology in Humans
    7. Arteriopathy
    8. Genetics of Blood Pressure Regulation
    9. Common Genetic Determinants of Coagulation and Fibrinolysis
    10. Genetics of Atherosclerotic Cardiovascular Disease
    11. Disorders of the Venous System
    12. Capillary Malformation/Arteriovenous Malformation

    Section 2
    13. Cystic Fibrosis
    14. Genetic Underpinnings of Asthma and Related Traits
    15. Hereditary Pulmonary Emphysema
    16. LAM
    17. Interstitial and Restrictive Pulmonary Disorders

    Section 3
    18. Congenital Anomalies of the Kidney and Urinary Tract
    19. Cystic Diseases of the Kidney
    20. Nephrotic Disorders
    21. Renal Tubular Disorders

    Section 4
    22. Gastrointestinal Tract and Hepatobiliary Duct System
    23. Inflammatory Bowel Disease
    24. Bile Pigment Metabolism and Its Disorders

  • 63000lei 510.00 lei

    Beicher & MacKay's Obstetrics, Gynaecology and the Newborn, 4th Edition is an update of the highly acclaimed Obstetrics and the Newborn, 3rd Edition and Illustrated Textbook of Gynaecology. It is the most up-to-date resource in Obstetrics and Gynaecology targetting those with fundamental understanding of this subject area and is written from the Australian perspective with incorporation of the latest RANZCOG guidelines. Experts throughout Australia and New Zealand have contributed content on the most prevalent topics encountered by obstetricians; gynaecologists and neonatologists today, ranging from global and indigenous reproductive health; sexual assault; gynaecological oncology through to neonatal assessment, malformations and transport.

  • 68200lei 610.00 lei

    Description

    For decades, Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics has served as the ultimate resource for clinicians integrating genetics into medical practice.

    With nearly 5,000 pages of detailed coverage, contributions from over 250 of the world’s most trusted authorities in medical genetics, and a series of 11 volumes available for individual sale, the Seventh Edition of this classic reference includes the latest information on seminal topics such as prenatal diagnosis, genome and exome sequencing, public health genetics, genetic counseling, and management and treatment strategies to complete its coverage of this growing field for medical students, residents, physicians, and researchers involved in the care of patients with genetic conditions. This comprehensive yet practical resource emphasizes theory and research fundamentals related to applications of medical genetics across the full spectrum of inherited disorders and applications to medicine more broadly.

    In Metabolic Disorders, leading physicians and researchers thoroughly examine medical genetics as applied to a range of metabolic disorders, with emphasis on understanding the genetic mechanisms underlying these disorders, diagnostic approaches, and therapeutics that make use of current genomic technologies and translational studies. Here genetic researchers, students, and health professionals will find new and fully revised chapters on the genetic basis of body mass, amino acid, carbohydrate, iron, copper, lipo protein, and lipid metabolic disorders, as well as organic acidemias, fatty acid oxidation, and peroxisome disorders among others.

    With regular advances in genomic technologies propelling precision medicine into the clinic, Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics: Seventh Edition bridges the gap between high-level molecular genetics and practical application and serves as an invaluable clinical tool for health professionals and researchers.

    Readership

    Students, physicians, and researchers in the field of medical genetics and personalized medicine; medical practitioners and researchers specializing in metabolic disorders, molecular medicine, and cytogenetics, as well as genetic diagnostics and therapy in these and related disciplines; genetic counselors; genetic researchers in industry and pharma

    Table of Contents:

    1 Disorders of the Body Mass
    Omar Ali, Alvina Kansra and Patricia A. Donohoue
    2. Genetic Lipodystrophies
    Abhimanyu Garg
    3. Amino Acid Metabolism
    Rossana L. Sanchez Russo and William R. Wilcox
    4. Disorders of Carbohydrate Metabolism
    Priya S. Kishnani and Yuan-Tsong Chen
    5. Disorders Affecting Glycosylation
    Hudson H. Freeze, Bobby G. Ng and Lynne A. Wolfe
    6. Purine and Pyrimidine Metabolism
    Naoyuki Kamatani, H.A. Jinnah, Raoul C.M. Hennekam and André B.P. van Kuilenburg
    7. Lipoprotein and Lipid Metabolism
    Robert A. Hegele
    8. Organic Acidemias and Disorders of Fatty Acid Oxidation
    Jerry Vockley
    9. Vitamin D Metabolism or Action
    Elizabeth A. Streeten and Michael A. Levine
    10. Inherited Porphyrias
    Robert J. Desnick, Manisha Balwani and Karl E. Anderson
    11. Inherited Disorders of Human Copper Metabolism
    Stephen G. Kaler
    12. Iron Metabolism and Related Disorders
    Yelena Z. Ginzburg and Karin E. Finberg
    13. Mucopolysaccharidoses
    Roberto Giugliani
    14. Lysosomal Storage Disorders
    Angela Sun, Irene J. Chang, Christina Lam and Gerard T. Berry
    15. Peroxisomal Disorders
    Ronald J.A. Wanders and Hans R. Waterham
    16. Genetics of Mitochondrial Respiratory Chain Disease
    Rebecca D. Ganetzky and Marni J. Falk

  • 654.00 lei

    This book addresses the biological, moral and legal issues around prenatal testing of late onset neurogenetic disease. The contributors focus specifically on Huntington's Disease, which is used as a model for other late onset neurogenetic diseases. The et

  • 87000lei 750.00 lei

    This book provides the only comprehensive treatise available on Fanconi Anemia. It gives a detailed analysis from the clinical to the molecular levels of the disorder. It also allows insight into the mechanisms of responses to DNA damage, and the complex interactions of several previously unknown proteins. The book will give research students a platform for further investigation, and act as a source of information regarding experimental design.

  • 94000lei 760.00 lei

    This is the only book that presents clinical cases to illuminate basic concepts of cardiovascular genetics and genomics as practitioners encounter them in day-to-day practice. The unique use of real-world case discussions facilitates the memorization and understanding of basic principles, which can be more readily applied to actual cases.

  • 1,13000lei 960.00 lei

    Genetic Disorders and the Fetus: Diagnosis, Prevention and Treatment, Seventh Edition is the eagerly awaited new edition of the discipline–leading text that has been at the forefront of diagnosis, prevention, and treatment of fetal genetic disorders for over 36 years. The seventh edition continues the long–established tradition of excellence that has become synonymous with this text. The book builds on the foundations of preconception and prenatal genetic counseling and the original pillars of prenatal diagnosis while also providing authoritative coverage of exciting developments in non–invasive genetic testing and rapidly developing molecular techniques, including microarray analysis and next generation sequencing, that are revolutionizing the field. Chapters are once again authored by internationally recognized authorities in the field of prenatal diagnosis. The editors have added three entirely new chapters to this edition to complement the complete revision of existing content. The three new chapters focus on non–invasive prenatal screening, placental genetics, and the psychology of prenatal and perinatal grief. The broad–ranging coverage and international scope will ensure that the new edition maintains its role as the major repository for information on all aspects of prenatal diagnosis. The editors have brought together an invaluable collection of evidence–based facts bolstered by knowledge and decades of experience in the field. Genetic Disorders and the Fetus: Diagnosis, Prevention and Treatment, 7th Edition is a timely update to this world–leading text.

  • 1,14700lei 980.00 lei

     

    Description:

     

    Publisher's Note: Products purchased from 3rd Party sellers are not guaranteed by the Publisher for quality, authenticity, or access to any online entitlements included with the product. Offering a comprehensive overview of the diagnostic surgical pathology, cytopathology, immunohistochemistry and molecular genetics of the thyroid diseases, this updated reference now incorporates recent, groundbreaking studies and major changes in the field. Global experts provide a complete guide to all diagnoses alongside major advances in tumor staging, immunohistochemistry and molecular genetics, helping you effectively evaluate thyroid tumors and non-neoplastic diseases.

     

    Table of Contents:

     

    1 Normal Anatomy and Histology

    MACROANATOMY

    Basic Anatomy

    Normal Weight

    Anatomic Relationships

    Vascular Supply

    Lymphatic Drainage

    Innervation

    MICROANATOMY

    The Follicle

    Colloid

    Crystals

    Follicular Cells

    Ultrastructure

    Immunohistochemistry

    C Cells

    Immunohistochemistry

    Distribution in Thyroid

    Ultrastructure

    Solid Cell Nests

    Morphologic Features

    Immunohistochemistry

    Differential Diagnosis

    Neoplastic Potential

    Heterologous Tissues within Thyroid

    REFERENCES

    2 Embryology and Developmental Lesions

    EMBRYOLOGY

    Embryologic Origination

    Medial Thyroid Primordium

    Migration

    Folliculogenesis

    Growth and Maturation

    Lateral Thyroid Primordia

    Migration and Fusion

    GENES INVOLVED IN THYROID DEVELOPMENT

    Early Development

    TTF1 (NKX2-1)

    PAX8

    FOXE1

    HHEX

    TBX1

    Later Development

    TSHR

    Thyroglobulin

    TPO

    SLC5A5 (NIS)

    SLC26A4 (PDS)

    DUOX1 and DOX2

    DUOXA1 and DUOXA2

    IYD (DEHAL1)

    HOXA3

    ASCL1 (HASH1)

    DEVELOPMENTAL LESIONS

    Thyroid Dysgenesis

    Agenesis

    Hypoplasia

    Hemiagenesis

    Thyroid Tissue in Abnormal Locations

    Ectopic Thyroid Tissue

    True Thyroid Ectopia

    Thyroglossal Duct Cyst

    Lateral Aberrant Thyroid Tissue

    Thyroid Inclusions in Lymph Nodes

    Parasitic Nodule

    Teratoma and Struma Ovarii

    Pyriform Sinus Fistula/Sinus Tract

    Cystic Remnant of Ultimobranchial Body

    Intrathymic Thyroid Tissue

    REFERENCES

    3 Thyroid Physiology

    THYROID HORMONE SYNTHESIS AND SECRETION

    The Hypothalamic-Thyroid Axis

    Thyroid Hormone Synthesis and Its Abnormalities

    The Sodium-Iodide Symporter

    Pendrin as a Mediator of Iodide Efflux at the Apical Membrane

    Thyroglobulin, the Matrix for Thyroid Hormone Synthesis

    Thyroperoxidase

    The H2O2-Generating System

    Hormone Processing and Secretion

    Dehalogenation of MIT and DIT

    Thyroid Hormone Transport

    Thyroid Hormone Action

    PARAFOLLICULAR C-CELLS AND CALCITONIN

    REFERENCES

    4 Thyroiditis

    ACUTE THYROIDITIS

    Definition and Etiology

    Clinical Features

    Pathology

    Differential Diagnosis

    GRANULOMATOUS THYROIDITIS

    Subacute Granulomatous Thyroiditis (Subacute or de Quervain Thyroiditis)

    Definition

    Etiology

    Clinical Features

    Pathology

    Cytopathology

    Differential Diagnosis

    Other Types of Granulomatous Thyroiditis

    Palpation Thyroiditis

    Tuberculosis

    Fungal Infection

    Sarcoidosis

    CHRONIC THYROIDITIS

    General Overview

    Chronic Lymphocytic Thyroiditis (Hashimoto or Autoimmune Thyroiditis)

    Definition

    Epidemiology

    Pathogenesis

    Pathology

    Associated Neoplasia

    Variants of Chronic Lymphocytic Thyroiditis

    Postpartum Thyroiditis

    Definition and Clinical Features

    Pathology

    Clinical Course and Differential Diagnosis

    Silent Thyroiditis

    Definition and Clinical Features

    Pathology

    Differential Diagnosis

    Peritumoral Thyroiditis

    Focal Lymphocytic Thyroiditis

    Definition and Clinical Features

    Pathology

    Invasive Fibrous Thyroiditis (Riedel Thyroiditis)

    Definition and Clinical Features

    Pathogenesis

    Pathology

    Differential Diagnosis

    Clinical Course

    REFERENCES

    5 Diffuse and Nodular Hyperplasia

    GRAVES DISEASE (DIFFUSE TOXIC HYPERPLASIA)

    Definition

    Historical Comments

    Epidemiology

    Etiologic Factors

    Pathogenesis and Molecular Genetics

    Ophthalmopathy

    Clinical Presentation and Imaging

    Laboratory Tests

    Pathology

    Gross Features

    Histologic Features

    Cytologic Features

    Differential Diagnosis

    Treatment and Prognosis

    NODULAR HYPERPLASIA

    Multinodular Goiter

    Definition

    Epidemiology

    Etiologic Factors

    Pathogenesis and Molecular Genetics

    Clinical Presentation and Imaging

    Laboratory Tests

    Pathology

    Gross Features

    Histologic Features

    Cytologic Features

    Differential Diagnosis

    Treatment and Prognosis

    Endemic Goiter

    Definition

    Epidemiology

    Etiology and Pathophysiology

    Clinical Presentation

    Pathology

    Dyshormonogenetic Goiter

    Definition

    Epidemiology

    Pathogenesis and Molecular Pathology

    Pathology

    Differential Diagnosis

    Toxic (Hyperfunctioning) Multinodular Goiter

    Definition

    Pathogenesis and Molecular Genetics

    Clinical Presentation and Imaging

    Pathology

    Differential Diagnosis

    Treatment and Prognosis

    REFERENCES

    6 Other Non-Neoplastic Conditions

    AMIODARONE-INDUCED THYROID DISEASE

    Pharmacology

    Effect on Thyroid Follicular Cells and Hormone Synthesis

    Effect on Thyroid Hormone Metabolism

    Amiodarone-Induced Hypothyroidism

    Pathology

    Amiodarone-Induced Thyrotoxicosis

    Pathology

    Treatment and Prognosis

    MINOCYCLINE-ASSOCIATED CHANGES (“BLACK THYROID”)

    Pathogenesis

    Clinical Presentation

    Pathology

    Gross Features

    Histologic Features

    Cytologic Features

    Differential Diagnosis

    Treatment and Prognosis

    POSTRADIATION CHANGES

    Acute/Early Changes

    Chronic/Late Changes

    AMYLOIDOSIS

    Pathogenesis

    Clinical Presentation and Imaging

    Pathology

    Gross Features

    Histologic Features

    Differential Diagnosis

    Treatment and Prognosis

    ALTERATIONS FOLLOWING FNA OF THE THYROID

    Invasion versus Pseudoinvasion

    Vascular Proliferation

    Spindle Cell Proliferation

    Reactive Follicular Epithelial Atypia

    Infarction

    REFERENCES

    7 Thyroid Tumors: Classification, Incidence, and General Considerations

    CLASSIFICATION

    INCIDENCE AND EPIDEMIOLOGY

    GENETIC LANDSCAPE

    GENETIC SUSCEPTIBILITY AND OTHER RISK FACTORS

    CLINICAL PRESENTATION AND MANAGEMENT

    SURVIVAL AND PROGNOSTIC FACTORS

    REFERENCES

    8 Staging of Thyroid Cancer

    INTRODUCTION

    The Eighth Edition AJCC/UICC Staging System

    Eighth Edition AJCC/TNM Staging for DTC

    Increasing the Age Cutoff to 55 Years of Age in DTC

    Re-evaluating the Impact of Cervical Lymph Node Metastasis on Prognosis in DTC

    Re-evaluating the Impact of Microscopic Extrathyroidal Extension on Prognosis in DTC

    Affirmation of the Importance of Gross Extrathyroidal Extension on Prognosis in DTC

    Practical Application of the Eighth Edition Staging System for DTC in Clinical Practice

    Expected Outcomes and Validation of the Eighth Edition Staging System in DTC

    Eighth Edition AJCC/TNM Staging for Anaplastic Thyroid Cancer

    Eighth Edition AJCC/TNM Staging for Medullary Thyroid Cancer

    REFERENCES

    9 Follicular Adenoma and Hürthle Cell (Oncocytic) Adenoma

    DEFINITION

    INCIDENCE AND EPIDEMIOLOGY

    ETIOLOGIC FACTORS

    PATHOGENESIS AND MOLECULAR GENETICS

    Clonality

    Genetics of Follicular Adenomas

    Point Mutations

    RAS Mutations

    EIF1AX Mutations

    PTEN Mutations

    DICER1 Mutations

    Other Point Mutations

    Mutations in Hyperfunctioning Adenomas

    Gene Fusions

    DNA Copy Number Alterations

    Genetics of Hürthle Cell Adenomas

    CLINICAL PRESENTATION AND IMAGING

    GROSS FEATURES

    MICROSCOPIC FEATURES OF FOLLICULAR ADENOMA

    Microscopic Variants

    Hyperfunctioning (“Toxic”, “Hot”) Follicular Adenoma

    Follicular Adenoma with Papillary Hyperplasia

    Adenolipoma (Lipoadenoma)

    Follicular Adenoma with Signet-Ring Cells

    Follicular Adenoma with Clear Cells

    Follicular Adenoma with Lipid-Rich Cells

    Follicular Adenoma with Bizarre Nuclei

    Atypical Follicular Adenoma

    Other Variants of Follicular Adenoma

    MICROSCOPIC FEATURES OF HÜRTHLE CELL (ONCOCYTIC) ADENOMA

    IMMUNOHISTOCHEMISTRY

    MOLECULAR DIAGNOSTICS

    ULTRASTRUCTURAL FEATURES

    CYTOLOGIC FEATURES

    DIFFERENTIAL DIAGNOSIS

    TREATMENT AND PROGNOSIS

    REFERENCES

    10 Hyalinizing Trabecular Tumor

    DEFINITION

    HISTORICAL COMMENTS AND POINTS OF CONTROVERSY

    INCIDENCE AND EPIDEMIOLOGY

    ETIOLOGY

    PATHOGENESIS AND MOLECULAR GENETICS

    Point Mutations and Gene Fusions

    Dysregulation of MicroRNA

    DNA Copy Number Alterations

    CLINICAL PRESENTATION AND IMAGING

    GROSS FEATURES

    MICROSCOPIC FEATURES

    CYTOCHEMISTRY AND IMMUNOHISTOCHEMISTRY

    MOLECULAR DIAGNOSTICS

    ULTRASTRUCTURAL FEATURES

    CYTOLOGIC FEATURES

    DIFFERENTIAL DIAGNOSIS

    TREATMENT AND PROGNOSIS

    REFERENCES

    11 Noninvasive Follicular Thyroid Neoplasm with Papillary-Like Nuclear Features

    DEFINITION

    INCIDENCE AND EPIDEMIOLOGY

    ETIOLOGY

    PATHOGENESIS AND MOLECULAR GENETICS

    Point Mutations and Gene Fusions

    RAS Mutations

    EIF1AX Mutations

    PTEN Mutations

    DICER1 Mutations

    BRAF K601E Mutations

    PAX8/PPARG Fusions

    THADA Fusions

    Controversy with BRAF V600E Mutation Occurrence in NIFTP

    Dysregulation of RNA and MicroRNA Expression

    CLINICAL PRESENTATION AND IMAGING

    GROSS FEATURES

    MICROSCOPIC FEATURES

    Secondary Diagnostic Criteria

    IMMUNOHISTOCHEMICAL FEATURES

    MOLECULAR DIAGNOSTICS

    CYTOLOGIC FEATURES

    DIFFERENTIAL DIAGNOSIS

    TREATMENT AND PROGNOSIS

    REFERENCES

    12 Follicular Carcinoma and Hürthle Cell (Oncocytic) Carcinoma

    DEFINITION

    INCIDENCE AND EPIDEMIOLOGY

    ETIOLOGIC FACTORS

    PATHOGENESIS AND MOLECULAR GENETICS

    Genetics of Follicular Carcinoma

    Point Mutations

    Gene Fusions

    DNA Copy Number Alterations

    Pathogenesis of Hürthle Cell Carcinomas

    Pathogenetic Relationship between Follicular/Hürthle Cell Adenoma and Follicular/Hürthle Cell Carcinoma

    CLINICAL PRESENTATION AND IMAGING

    GROSS FEATURES

    MICROSCOPIC FEATURES

    Microscopic Features of Follicular Carcinoma

    Microscopic Features of Hürthle Cell Carcinoma

    Vascular Invasion

    Capsular Invasion

    TUMOR INVASIVENESS

    Minimally Invasive Carcinoma

    Encapsulated Angioinvasive Carcinoma

    Widely Invasive Follicular Carcinoma

    SPREAD AND METASTASES

    MICROSCOPIC VARIANTS

    Clear Cell Variant

    Mucinous Variant

    Follicular Carcinoma with Signet-Ring Cells

    Follicular Microcarcinoma

    Follicular Carcinoma in Patients with the PTEN Hamartoma Tumor Syndrome

    Other Variants of Follicular Carcinoma

    IMMUNOHISTOCHEMISTRY

    MOLECULAR DIAGNOSTICS

    ULTRASTRUCTURAL FEATURES

    CYTOLOGIC FEATURES

    DIFFERENTIAL DIAGNOSIS

    TREATMENT AND PROGNOSIS

    REFERENCES

    13 Papillary Carcinoma

    DEFINITION

    INCIDENCE AND EPIDEMIOLOGY

    ETIOLOGIC FACTORS

    Ionizing Radiation

    Iodine Levels

    Other Environmental Factors

    Preexisting Benign Thyroid Disease and TSH Levels

    Hormonal and Reproductive Factors

    Hereditary Factors

    Other Factors

    PATHOGENESIS AND MOLECULAR GENETICS

    Somatic Mutation Density

    Point Mutations

    BRAF

    RAS

    EIF1AX

    TERT

    Other Point Mutations

    Clonality of Driver Mutations and Tumor Multifocality

    Gene Fusions

    RET Fusions (RET/PTC)

    BRAF Fusions

    NTRK Fusions

    ALK Fusions

    THADA Fusions

    PPARG Fusions

    Other Fusions

    Copy Number Alterations

    Gene Expression Alterations

    Alterations in miRNA Expression

    CLINICAL FEATURES AND IMAGING

    GROSS FEATURES

    MICROSCOPIC FEATURES

    Infiltrative Border

    Architectural Patterns

    Tumor Cells

    1. Nuclear size and shape

    2. Nuclear membrane irregularities

    3. Chromatin characteristics

    Nuclear score

    Psammoma Bodies

    Tumor Fibrosis

    Other Microscopic Features

    SPREAD AND METASTASES

    Multicentricity versus Intraglandular Spread

    Lymphatic and Blood Vessel Invasion

    Extrathyroidal Extension

    Local and Distant Metastases

    GRADING

    MICROSCOPIC VARIANTS

    Papillary Microcarcinoma

    Follicular Variant

    Infiltrative Follicular Variant

    Encapsulated Follicular Variant

    Diffuse (Multinodular) Follicular Variant

    Macrofollicular Variant

    Tall Cell Variant

    Solid Variant

    Diffuse Sclerosing Variant

    Columnar Cell Variant

    Oncocytic (Hürthle Cell) Variant

    Hobnail Variant

    Cribriform-Morular Variant

    Warthin-like Variant

    Clear Cell Variant

    Papillary Carcinoma with Desmoid-Type Fibromatosis/Fasciitis-Like Stroma

    Other Variants of Papillary Carcinoma

    IMMUNOHISTOCHEMICAL FEATURES

    Markers of Thyroid Follicular Cells

    Diagnostic Immunohistochemical Markers

    MOLECULAR DIAGNOSTICS

    BRAF V600E-Like Alterations

    RAS-Like Alterations

    Alterations Primarily Associated with Benign Nodules

    ULTRASTRUCTURAL FEATURES

    CYTOLOGIC FEATURES

    DIFFERENTIAL DIAGNOSIS

    Tumors with Papillary Architecture

    Tumors with Follicular Architecture

    Tumors with Solid, Trabecular, or Insular Architecture

    Tumors with Extensive Fibrosis

    TREATMENT AND PROGNOSIS

    Treatment

    Disease Monitoring

    Prognosis

    Molecular Prognostic Factors

    Targeted Therapies

    REFERENCES

    14 Poorly Differentiated Carcinoma

    DEFINITION

    HISTORICAL COMMENTS AND EVOLUTION OF DIAGNOSTIC CRITERIA

    INCIDENCE AND EPIDEMIOLOGY

    ETIOLOGIC FACTORS

    PATHOGENESIS AND MOLECULAR GENETICS

    Point Mutations

    RAS Mutations

    BRAF Mutations

    EIF1AX Mutations

    PI3K/AKT Pathway Mutations

    TERT Mutations

    TP53 Mutations

    Other Mutations

    Gene Fusions

    ALK Fusions

    RET, PPARG Gene Fusions

    DNA Copy Number Alterations

    Other Alterations

    CLINICAL PRESENTATION AND IMAGING

    GROSS FEATURES

    MICROSCOPIC FEATURES

    Poorly Differentiated Hurthle Cell (Oncocytic) Carcinoma

    Poorly Differentiated Carcinoma of Pediatric Age

    Other Subtypes

    Tumors with a Minor Component of Poorly Differentiated Carcinoma

    SPREAD AND METASTASES

    IMMUNOHISTOCHEMISTRY

    MOLECULAR DIAGNOSTICS

    ULTRASTRUCTURAL FEATURES

    CYTOLOGIC FEATURES

    DIFFERENTIAL DIAGNOSIS

    Distinction from Well-Differentiated Thyroid Carcinoma

    Distinction from Anaplastic Thyroid Carcinoma

    Distinction from Medullary Thyroid Carcinoma

    Distinction from Non-Thyroid Malignancies

    TREATMENT AND PROGNOSIS

    REFERENCES

    15 Anaplastic (Undifferentiated) Carcinoma

    DEFINITION

    INCIDENCE AND EPIDEMIOLOGY

    ETIOLOGIC FACTORS

    Preexisting Thyroid Disease

    Preexisting Carcinoma

    Preexisting Benign Thyroid Disease

    Iodine Deficiency

    Radiation Exposure

    PATHOGENESIS AND MOLECULAR GENETICS

    Point Mutations

    RAS Mutations

    BRAF Mutations

    TERT Mutations

    TP53 Mutations

    PI3K/AKT Pathway Mutations

    Other Mutations

    Gene Fusions

    DNA Copy Number Alterations

    Other Alterations

    Tumor-Associated Macrophages

    CLINICAL PRESENTATION AND IMAGING

    GROSS FEATURES

    MICROSCOPIC FEATURES

    Spindle Cell Pattern

    Pleomorphic Giant Cell Pattern

    Squamoid Pattern

    MICROSCOPIC VARIANTS

    Paucicellular Variant

    Rhabdoid Variant

    Small Cell Variant

    ANAPLASTIC CARCINOMA WITH COEXISTING WELL-DIFFERENTIATED OR POORLY DIFFERENTIATED CARCINOMA

    IMMUNOHISTOCHEMISTRY

    MOLECULAR DIAGNOSTICS

    ULTRASTRUCTURAL FEATURES

    CYTOLOGIC FEATURES

    DIFFERENTIAL DIAGNOSIS

    Distinction from Thyroid Carcinomas and Benign Lesions

    Distinction from Nonthyroid Malignancies and Sarcomas

    TREATMENT AND PROGNOSIS

    REFERENCES

    16 Medullary Carcinoma

    MEDULLARY CARCINOMA

    Definition

    Historical Comments

    Incidence and Epidemiology

    Hereditary Medullary Thyroid Carcinoma

    Sporadic Medullary Thyroid Carcinoma

    Etiologic Factors

    Pathogenesis and Molecular Genetics

    Germline RET Mutations

    Somatic Mutations in Sporadic Medullary Thyroid Carcinoma

    Other Genetic Abnormalities

    Loss of Heterozygosity

    DNA Ploidy

    C-Cell Hyperplasia and Relationship to Medullary Carcinoma

    Historical Comments

    Origin and Distribution of C Cells

    C-Cell Hyperplasia

    Clinical Presentation and Imaging

    Gross Features

    Microscopic Features

    Amyloid Stroma

    Spread and Metastasis

    Microscopic Variants

    Spindle Cell Variant

    Papillary/Pseudopapillary Variant

    Oncocytic/Oxyphilic Variant

    Clear-Cell Variant

    Glandular/Pseudofollicular Variant

    Amphicrine/Composite Calcitonin and Mucin-Producing Variant

    Paraganglioma-Like Variant

    Small Cell Variant

    Giant Cell Variant

    Angiosarcoma-Like Variant

    Melanin-Producing/Pigmented Variant

    Squamous Cell Variant

    Other Proposed Variants

    Histochemistry

    Immunohistochemistry

    Molecular Diagnostics

    Ultrastructural Features

    Cytologic Features

    Differential Diagnosis

    Treatment and Prognosis

    Prophylactic Thyroidectomy and Specimen Processing

    Prognosis

    Mixed Medullary and Follicular Carcinoma

    Mixed Medullary and Papillary Carcinoma

    REFERENCES

    17 Rare Primary Thyroid Epithelial Tumors

    MUCOEPIDERMOID CARCINOMA

    Etiology

    Histogenesis and Molecular Genetics

    Clinical Presentation

    Pathology

    Gross Presentation

    Microscopic Description

    Immunohistochemistry and Molecular Diagnostics

    Cytopathology

    Differential Diagnosis

    Treatment and Prognosis

    SCLEROSING MUCOEPIDERMOID CARCINOMA WITH EOSINOPHILIA

    Etiology

    Histogenesis and Molecular Genetics

    Clinical Presentation

    Pathology

    Gross Presentation

    Microscopic Description

    Immunohistochemistry and Molecular Diagnostics

    Cytopathology

    Differential Diagnosis

    Treatment and Prognosis

    SQUAMOUS CELL CARCINOMA

    Histogenesis and Molecular Genetics

    Clinical Presentation

    Pathology

    Gross Presentation

    Microscopic Description

    Immunohistochemistry and Molecular Diagnostics

    Cytopathology

    Differential Diagnosis

    Treatment and Prognosis

    MUCINOUS CARCINOMA

    Histogenesis and Molecular Genetics

    Clinical Presentation

    Pathology

    Gross Presentation

    Microscopic Description

    Immunohistochemistry and Molecular Diagnostics

    Differential Diagnosis

    Treatment and Prognosis

    SPINDLE EPITHELIAL TUMOR WITH THYMUS-LIKE DIFFERENTIATION

    Histogenesis

    Clinical Presentation

    Pathology

    Gross Presentation

    Microscopic Description

    Immunohistochemistry and Molecular Diagnostics

    Cytopathology

    Differential Diagnosis

    Treatment and Prognosis

    CARCINOMA SHOWING THYMUS-LIKE DIFFERENTIATION

    Histogenesis and Molecular Genetics

    Clinical Presentation

    Pathology

    Gross Presentation

    Microscopic Description

    Immunohistochemistry and Molecular Diagnostics

    Cytopathology

    Differential Diagnosis

    Treatment and Prognosis

    ECTOPIC THYMOMA

    Histogenesis and Molecular Genetics

    Clinical Presentation

    Pathology

    Gross Presentation

    Microscopic Description

    Immunohistochemistry and Molecular Diagnostics

    Cytopathology

    Differential Diagnosis

    Treatment and Prognosis

    SECRETORY CARCINOMA

    Clinical Presentation

    Pathology

    Immunohistochemistry and Molecular Diagnostics

    Differential Diagnosis

    Treatment and Prognosis

    REFERENCES

    18 Rare Primary Thyroid Nonepithelial Tumors and Tumor-Like Conditions

    PRIMARY ANGIOSARCOMA

    Etiology

    Histogenesis and Molecular Genetics

    Clinical Presentation

    Pathology

    Gross Presentation

    Microscopic Description

    Immunohistochemistry and Molecular Diagnostics

    Cytopathology

    Differential Diagnosis

    Treatment and Prognosis

    TERATOMA

    Histogenesis and Molecular Genetics

    Clinical Presentation

    Pathology

    Gross Presentation

    Microscopic Description

    Immunohistochemistry and Molecular Diagnostics

    Cytopathology

    Differential Diagnosis

    Treatment and Prognosis

    SMOOTH MUSCLE TUMORS

    Etiology

    Histogenesis and Molecular Genetics

    Clinical Presentation

    Pathology

    Gross Presentation

    Microscopic Description

    Immunohistochemistry and Molecular Diagnostics

    Cytology

    Differential Diagnosis

    Treatment and Prognosis

    PERIPHERAL NERVE SHEATH TUMORS

    Histogenesis and Molecular Genetics

    Clinical Presentation

    Pathology

    Gross Presentation

    Microscopic Description

    Immunohistochemistry and Molecular Diagnostics

    Cytopathology

    Differential Diagnosis

    Treatment and Prognosis

    PARAGANGLIOMA

    Etiology

    Histogenesis and Molecular Genetics

    Clinical Presentation

    Pathology

    Gross Presentation

    Microscopic Description

    Immunohistochemistry and Molecular Diagnostics

    Cytopathology

    Differential Diagnosis

    Treatment and Prognosis

    SOLITARY FIBROUS TUMOR

    Histogenesis and Molecular Genetics

    Clinical Presentation

    Pathology

    Gross Presentation

    Microscopic Description

    Immunohistochemistry and Molecular Diagnostics

    Cytopathology

    Differential Diagnosis

    Treatment and Prognosis

    FOLLICULAR DENDRITIC CELL TUMOR

    Etiology

    Histogenesis and Molecular Genetics

    Clinical Presentation

    Pathology

    Gross Presentation

    Microscopic Description

    Immunohistochemistry and Molecular Diagnostics

    Differential Diagnosis

    Treatment and Prognosis

    LANGERHANS CELL HISTIOCYTOSIS

    Etiology

    Histogenesis and Molecular Genetics

    Clinical Presentation

    Pathology

    Gross Presentation

    Microscopic Description

    Immunohistochemistry and Molecular Diagnostics

    Cytopathology

    Differential Diagnosis

    Treatment and Prognosis

    ROSAI-DORFMAN DISEASE

    Histogenesis and Molecular Genetics

    Clinical Presentation

    Pathology

    Microscopic Description

    Immunohistochemistry and Molecular Diagnostics

    Differential Diagnosis

    Treatment and Prognosis

    GRANULAR CELL TUMOR

    Histogenesis and Molecular Genetics

    Clinical Presentation

    Pathology

    Microscopic Description

    Cytology, Immunohistochemistry, and Molecular Diagnostics

    Differential Diagnosis

    Treatment and Prognosis

    REFERENCES

    19 Primary Thyroid Lymphoma

    DEFINITION

    ETIOLOGY

    PATHOGENESIS AND MOLECULAR GENETICS

    CLINICAL PRESENTATION

    STAGE

    PATHOLOGY

    Gross Presentation

    Microscopic and Immunophenotypic Features

    Extranodal Marginal Zone Lymphoma of Mucosa-Associated Tissue (MALT Lymphoma)

    Diffuse Large B-Cell Lymphoma

    Follicular Lymphoma

    Plasmacytoma

    Hodgkin Lymphoma

    Other Lymphoma Subtypes

    Cytopathology

    Differential Diagnosis

    TREATMENT AND PROGNOSIS

    REFERENCES

    20 Tumors Metastatic to the Thyroid

    DEFINITION

    ETIOLOGY

    CLINICAL PRESENTATION

    GROSS PRESENTATION

    MICROSCOPIC FEATURES

    IMMUNOHISTOCHEMISTRY AND MOLECULAR DIAGNOSTICS

    CYTOLOGIC FEATURES

    DIFFERENTIAL DIAGNOSIS

    TREATMENT AND PROGNOSIS

    REFERENCES

    21 Principles of Reporting Thyroid Cytopathology Specimens

    INTRODUCTION

    EVALUATION OF THYROID NODULES

    Clinical Evaluation

    Ultrasound Evaluation

    FINE-NEEDLE ASPIRATION BIOPSY

    Procedure

    REPORTING OF THYROID FINE-NEEDLE ASPIRATION

    REFERENCES

    22 Gross Examination

    INTRODUCTION

    THYROID SPECIMEN TYPES

    ORIENTATION

    GROSS PATHOLOGY

    Nodules

    Multinodular Process

    Background Thyroid Parenchyma

    SUBMISSION OF SECTIONS

    REFERENCES

    23 Principles of Molecular Diagnostics in Thyroid Samples

    GENERAL PRINCIPLES OF MOLECULAR BIOLOGY

    DNA

    RNA

    Protein

    GENOMIC ALTERATIONS

    Benign Polymorphisms versus Pathogenic Mutations

    Somatic versus Germline Mutations

    Driver versus Passenger Mutations

    Types of Genomic Alterations

    Single Nucleotide Variations

    Insertions and Deletions (Indels)

    Chromosomal Translocation and Gene Fusions

    Copy Number Alterations

    Gene Expression Alterations

    SAMPLES FOR MOLECULAR ANALYSIS

    TECHNIQUES FOR MOLECULAR ANALYSIS

    Conventional Techniques

    Polymerase Chain Reaction

    Reverse Transcription PCR

    Real-time PCR

    Sanger Sequencing

    Fluorescent In Situ Hybridization

    PCR-Based LOH Analysis

    NEXT-GENERATION SEQUENCING

    Targeted NGS Analysis

    DETECTION OF CLONALITY

    GENE EXPRESSION ARRAYS

    REFERENCES

    24 Molecular Testing of Thyroid Fine-Needle Aspiration Samples

    CLINICAL CHALLENGE

    DIAGNOSTIC TESTS FOR THYROID NODULES

    Requirements for Clinical Molecular Tests

    Test Performance Characteristics

    Molecular Tests for Thyroid FNA Samples

    ThyroSeq

    Other Tests

    UTILITY OF MOLECULAR TESTS FOR CANCER RISK ASSESSMENT

    ROLE OF MOLECULAR TESTING IN PERSONALIZED PATIENT MANAGEMENT

    REFERENCES

    Index

     

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