Genomic And Expression Profiling Of Benign And Malignant Nerve Sheath Tumors In Neurofibromatosis Patients
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| Author | : Gianluca Tadini |
| Publisher | : Springer Nature |
| Total Pages | : 316 |
| Release | : 2020-06-02 |
| Genre | : Medical |
| ISBN | : 3319924508 |
This volume offers an update of the clinical signs, diagnostic criteria (including molecular diagnosis) and targeted therapies for a particular type of genodermatosis, providing a handy and unique tool for early diagnosis. In recent years, our understanding of genodermatosis and neurocutaneous syndromes has increased, but although Type 1 Neurofibromatosis (NF1) is the most common neuroectodermal disorder and involves a large number of patients and medical disciplines, this syndrome remains underestimated, often misdiagnosed thus leading to inaccurate treatment. The literature on the molecular and pathogenetic aspects is ample, but current clinical approaches, classification, diagnostic criteria and treatment protocols are outdated, creating difficulties in early diagnosis and treatment. As such, a chapter is devoted renewing current diagnostic criteria; it includes clinical and molecular data, to offer a sound, updated discussion basis for a consensus conference. NF1 is a “time-dependent” disorder, meaning that the onset of clinical signs are closely linked to patient age and the book discusses this particularly neglected aspect extensively, as well as the latest molecular diagnosis techniques, which are highly sensitive have not been included in the diagnostic criteria. It also explains the role of the RAS-MAPK pathway and genotype-phenotype correlations. In addition it explores new concepts concerning the pathogenesis of neurofibromas and other hamarthomas and their relevance for a modern therapeutical approach with targeted molecular drugs, as well as newly discovered aspects of NF1 in all internal organs, together with their diagnostic counterparts. A chapter on mosaic neurofibromatosis is also included. There is a particular focus on differential diagnosis (i.e. other diseases with café-au-lait macules), and the recently described Legius syndrome will be presented directly by Prof Eric Legius. All chapters are easy-to-understand, up-to-date, comprehensive and concise tools and are intended for a wide range of professionals involved with genetic disorders of the skin and neurocutaneous diseases: dermatologists, pediatricians, neurologists, oncologists and general practitioners.
| Author | : Markku Miettinen |
| Publisher | : Cambridge University Press |
| Total Pages | : 1117 |
| Release | : 2010-06-14 |
| Genre | : Medical |
| ISBN | : 1139489402 |
This book comprehensively covers modern soft tissue pathology and includes both tumors and non-neoplastic entities. Soft tissues make up a large bulk of the human body, and they are susceptible to a wide range of diseases. Many soft-tissue tumors are biologically very aggressive, and the chance of them metastasizing to vital organs is quite high. In recent years, the outlook for soft-tissue cancers has brightened dramatically due to the increased accuracy of the pathologist's tools. All methods of diagnosis are covered here, with an emphasis on the newest immunoassays and other genetic, molecular, and immunologic diagnostic modalities. This book's systematic description of benign and malignant primary soft tissue tumors with didactic, comprehensive panels of illustrations allows the reader to formulate a complete understanding of the morphology of tumor entities at one glance. The book covers both the most common tumor entities and more unusual diseases using more than 1,500 color images, making it a resource for beginning and senior pathologists.
| Author | : Meena Upadhyaya |
| Publisher | : Springer Science & Business Media |
| Total Pages | : 711 |
| Release | : 2013-01-29 |
| Genre | : Medical |
| ISBN | : 3642328644 |
Neurofibromatosis type 1 (NF1), caused by mutational inactivation of the NF1 tumour suppressor gene, is one of the most common dominantly inherited human disorders, affecting 1 in 3000 individuals worldwide. This book presents in concise fashion, but as comprehensively as possible, our current state of knowledge on the molecular genetics, molecular biology and cellular biology of this tumour predisposition syndrome. Written by internationally recognized experts in the field, the 44 chapters that constitute this edited volume provide the reader with a broad overview of the clinical features of the disease, the structure and expression of the NF1 gene, its germ line and somatic mutational spectra and genotype-phenotype relationships, the structure and function of its protein product (neurofibromin), NF1 modifying loci, the molecular pathology of NF1-associated tumours, animal models of the disease, psycho-social aspects and future prospects for therapeutic treatment.
| Author | : Fernando Guedes |
| Publisher | : Springer Nature |
| Total Pages | : 380 |
| Release | : 2021-08-24 |
| Genre | : Medical |
| ISBN | : 3030776336 |
Tumors involving peripheral nerves may be extremely challenging lesions to diagnose and treat. In order to optimize their management, physicians should have a thorough knowledge of peripheral nerve anatomy and pathology (both gross and microscopic), as well as familiarity with microsurgical techniques and intraoperative neurophysiological recording. This compendium deals with all aspects of tumors affecting peripheral nerves, from diagnosis to treatment; the topics it addresses range from epidemiology, anatomy, physiology, pathology, and clinical diagnosis to electrophysiology, imaging, genetic/cytomolecular aspects. Surgical approaches, biopsies and resection of various benign, malignant and pseudo-tumoral lesions, plexus tumors (both brachial and lumbosacral), and adjunctive treatment modalities and pain-related issues are described in detail. The book is intended not only for neurosurgeons, hand surgeons, plastic and orthopedic surgeons new to the field, but also for seasoned specialists who wish to update their knowledge with new insights based on robust experimental and clinical material. In addition, it will be a helpful tool for general and oncological surgeons who are sometimes faced with the treatment of mass lesions that may be potential nerve tumors, and for all practitioners who are engaged in the arduous struggle to bring relief to patients affected by these lesions.
| Author | : Peiguo Chu |
| Publisher | : Cambridge University Press |
| Total Pages | : 1179 |
| Release | : 2014-02-27 |
| Genre | : Medical |
| ISBN | : 1316184455 |
Since the publication of the first edition of this best-selling book in 2009, the field of immunohistochemistry has advanced significantly. Fully updated to reflect the latest developments in the field, Modern Immunohistochemistry, Second Edition, is a practical guide to all the important diagnostic markers in each organ system. Concise text is supplemented by over 1,100 high-quality colour images and algorithms. The new edition features even more summary tables, highlighting the key points of differential immunophenotypic panels. A new, expanded introduction explains the basic principles of immunohistochemistry, and chapters have been updated to incorporate predictive/prognostic markers and the latest WHO classifications. All chapters are written by the same expert authors, providing a consistent, engaging style throughout and avoiding contradictory advice. An essential text for residents, this is also an extremely valuable resource for practitioners in anatomic pathology wishing to familiarise themselves with diagnostic markers at a quick glance.
| Author | : WHO Classification of Tumours Editorial Board |
| Publisher | : WHO Classification of Tumours |
| Total Pages | : 0 |
| Release | : 2020 |
| Genre | : Medical |
| ISBN | : 9789283245025 |
PLEASE NOTE: Text has been accidentally deleted from page 54 of this book. Please refer to the corrigenda (PDF file) posted on the Stylus Publishing web site or email [email protected] for an updated, printable page. ****When not purchasing directly from the official sales agents of the WHO, especially at online bookshops, please note that there have been issues with counterfeited copies. Buy only from known sellers and if there are quality issues, please contact the seller for a refund.***** Soft Tissue and Bone Tumours is the third volume in the 5th edition of the WHO series on the classification of human tumours. This series (also known as the WHO Blue Books) is regarded as the gold standard for the diagnosis of tumours and comprises a unique synthesis of histopathological diagnosis with digital and molecular pathology. These authoritative and concise reference books provide indispensable international standards for anyone involved in the care of patients with cancer or in cancer research, underpinning individual patient treatment as well as research into all aspects of cancer causation, prevention, therapy, and education. This volume will be of particular interest to pathologists, oncologists, surgeons, and epidemiologists who manage or research soft tissue and bone tumours. Sections are included on all recognized neoplasms of the soft tissue and bone, as well as on genetic tumour syndromes affecting these sites. Since the previous edition, there have been changes based on recent molecular and genetic information, with impact on clinical practice.
| Author | : Robert O. Greer |
| Publisher | : Cambridge University Press |
| Total Pages | : 607 |
| Release | : 2017-07-06 |
| Genre | : Medical |
| ISBN | : 1316613992 |
A reference for tackling diagnostic dilemmas that pathologists and clinicians encounter when assessing pediatric head and neck disease.
| Author | : Marta C. Cohen |
| Publisher | : Cambridge University Press |
| Total Pages | : 1225 |
| Release | : 2015-02-05 |
| Genre | : Medical |
| ISBN | : 1316124150 |
Essentials of Surgical Pediatric Pathology is a clear and practical yet comprehensive guide for trainee pediatric pathologists and non-pediatric pathologists. Each chapter corresponds to one of the main subspecialties, such as dermatopathology, head and neck pathology, and system pathology. Practical guidance is given on handling pediatric specimens and the authors highlight the ways in which common conditions present differently in adults and children. Other chapters cover conditions typical of childhood, including soft tissue tumors and blue round cell tumors. The chapters begin with a brief clinical presentation, followed by a clear macroscopical and histological description of the principal pathologies seen in children. Up-to-date genetic and immunohistochemical information is provided, and the book includes hundreds of high-quality color images. Written and edited by leading international experts in the field, this is an essential resource for trainee pediatric pathologists, as well as general pathologists who may encounter pediatric cases.
| Author | : Mark R. Wick |
| Publisher | : Cambridge University Press |
| Total Pages | : 0 |
| Release | : 2015-03-26 |
| Genre | : Medical |
| ISBN | : 9781107022836 |
Silverberg's Principles and Practice of Surgical Pathology and Cytopathology is one of the most durable reference texts in pathology. Thoroughly revised and updated, this state-of-the-art new edition encompasses the entire fields of surgical pathology and cytopathology in a single source. Its practice-oriented format uniquely integrates these disciplines to present all the relevant features of a particular lesion, side by side. Over 4000 color images depict clinical features, morphological attributes, histochemical and immunohistochemical findings, and molecular characteristics of all lesions included. This edition features new highly experienced and academically accomplished editors, while chapters are written by the leading experts in the field (several new to this edition, bringing a fresh approach). Dr Steven Silverberg's practical approach to problem solving has been carefully preserved. The print book is packaged with access to a secure, electronic copy of the book, providing quick and easy access to its wealth of text and images.
| Author | : National Academies of Sciences Engineering and Medicine |
| Publisher | : |
| Total Pages | : |
| Release | : 2021-09-09 |
| Genre | : |
| ISBN | : 9780309683494 |
Since the late 1960s, the survival rate in children and adolescents diagnosed with cancer has steadily improved, with a corresponding decline in the cancer-specific death rate. Although the improvements in survival are encouraging, they have come at the cost of acute, chronic, and late adverse effects precipitated by the toxicities associated with the individual or combined use of different types of treatment (e.g., surgery, radiation, chemotherapy). In some cases, the impairments resulting from cancer and its treatment are severe enough to qualify a child for U.S. Social Security Administration disability benefits. At the request of Social Security Administration, Childhood Cancer and Functional Impacts Across the Care Continuum provides current information and findings and conclusions regarding the diagnosis, treatment, and prognosis of selected childhood cancers, including different types of malignant solid tumors, and the effect of those cancers on childrenâ (TM)s health and functional capacity, including the relative levels of functional limitation typically associated with the cancers and their treatment. This report also provides a summary of selected treatments currently being studied in clinical trials and identifies any limitations on the availability of these treatments, such as whether treatments are available only in certain geographic areas.
