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Genomics and Models of Nerve Sheath Tumors

Author: Angela C. Hirbe

Publisher: MDPI

Published: 2020-11-18

Total Pages: 172

ISBN-13: 3039434896

Nerve sheath tumors can be a significant cause of morbidity for many patients. These include benign tumors such as schwannomas, diffuse and plexiform neurofibromas, and atypical neurofibromas, as well as the aggressive soft tissue sarcoma known as the malignant peripheral nerve sheath tumor (MPNST). Nerve sheath tumors occur sporadically and in the context of the clinical neuro-genetic tumor predisposition syndromes neurofibromatosis type 1 (NF1) and type 2 (NF2). Historically, the mainstay of treatment for nerve sheath tumors has been surgery. However, for both benign and malignant nerve sheath tumors, there is a high recurrence rate, highlighting the pressing need for novel therapies. As we have entered the genomic era, the hope is that an improved understanding of the genetics, and therefore the biology, of these tumors will ultimately lead to therapies that result in better outcomes. In this Special Issue, we include both review articles and original research related to the genomic understanding and modeling of schwannomas, plexiform and diffuse neurofibromas, atypical neurofibromas, and malignant peripheral nerve sheath tumors as well as genomic methods being developed and applied to advance our understanding of these tumors.

Genomics and Models of Nerve Sheath Tumors

Author: Angela C. Hirbe

Publisher:

Published: 2020

Total Pages: 172

ISBN-13: 9783039434909

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Multidisciplinary Approach to Neurofibromatosis Type 1

Author: Gianluca Tadini

Publisher: Springer Nature

Published: 2020-06-02

Total Pages: 316

ISBN-13: 3319924508

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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.

Diagnostic Assessment and Treatment of Peripheral Nerve Tumors

Author: Fernando Guedes

Publisher: Springer Nature

Published: 2021-08-24

Total Pages: 380

ISBN-13: 3030776336

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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.

Genetic Evaluation of Peripheral Nerve Sheath Tumors in Neurofibromatosis Type I.

Author:

Publisher:

Published: 2002

Total Pages: 0

ISBN-13:

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The goal of this research project is to identify molecular changes that are associated with the progression of a peripheral nerve sheath tumor (PNST) from benign to malignancy. Archival and prospectively acquired benign PNSTs and malignant PNSTs are collected, and molecular changes at the NF1 locus and throughout the genome are assessed. In addition, immunohistological evaluations of benign plexiform neurofibromas and malignant peripheral nerve sheath tumors are performed. We have begun preliminary analyses of immunohistochemical phenotypes of the tumors and genome-wide screen tetra-nucleotide screen for allelic imbalance, as a marker for accumulation of somatic mutations in PNSTs.

Genomic and Expression Profiling of Benign and Malignant Nerve Sheath Tumors in Neurofibromatosis Patients

Author:

Publisher:

Published: 2004

Total Pages: 66

ISBN-13:

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The goal of the study is to identify genes that will serve as molecular markers for progression of neurofibroma to MPNST, and to identify potential therapeutic targets. Gene expression profiling was performed on 26 cases of MPNSTs, 23 schwannomas, 20 neurofibromas and II synovial sarcomas. By using unsupervised hierarchical clustering most tumors were grouped together according to tumor type. Further analysis suggested that a major trend in transformation from neurofibroma towards MPNST is accompanied by the loss of gene expression in a large number of genes, rather than widespread de novo expression of genes upon transformation. Subsequent analyses using Significance Analysis of Microarrays (SAM) identified genes that differentiate various nerve sheath tumors. The analysis also indicated new subtypes of MPNSTs. Expression of genes associated with TFGB signaling in majority of neurofibromas but not in MPNST suggest that TGFB signaling is one of the key regulatory pathways in neurofibromas. A large tissue microarray (TMA) was made containing 200 nerve sheath tumors and is being tested by IHC and ISH markers.

Neurofibromatosis Type 1

Author: Meena Upadhyaya

Publisher: Springer Science & Business Media

Published: 2013-01-29

Total Pages: 711

ISBN-13: 3642328644

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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.

Diseases of the Chest, Breast, Heart and Vessels 2019-2022

Author: Juerg Hodler

Publisher: Springer

Published: 2019-02-19

Total Pages: 238

ISBN-13: 3030111490

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This open access book focuses on diagnostic and interventional imaging of the chest, breast, heart, and vessels. It consists of a remarkable collection of contributions authored by internationally respected experts, featuring the most recent diagnostic developments and technological advances with a highly didactical approach. The chapters are disease-oriented and cover all the relevant imaging modalities, including standard radiography, CT, nuclear medicine with PET, ultrasound and magnetic resonance imaging, as well as imaging-guided interventions. As such, it presents a comprehensive review of current knowledge on imaging of the heart and chest, as well as thoracic interventions and a selection of "hot topics". The book is intended for radiologists, however, it is also of interest to clinicians in oncology, cardiology, and pulmonology.

Modern Soft Tissue Pathology

Author: Markku Miettinen

Publisher: Cambridge University Press

Published: 2010-06-14

Total Pages: 1117

ISBN-13: 1139489402

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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.

Genomic and Expression Profiling of Benign and Malignant Nerve Sheath Profiling of Benign and Malignant Nerve Sheath

Author:

Publisher:

Published: 2007

Total Pages: 27

ISBN-13:

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The goal of the study is to identify genes that will serve as molecular markers for progression of neurofibroma to MPNST, and to identify potential therapeutic targets. miRNA expression profiling was performed on 6 cases of MPNSTs, and 7 cases of synovial sarcomas. By using unsupervised hierarchical clustering most tumors were grouped together according to tumor type. Subsequent analyses using Significance Analysis of Microarrays (SAM) identified miRNAs that differentiate between MPNSTs and synovial sarcoma (SS). To develop a cell line model for MPNSTs, global gene expression profiles for cell lines established from 3 primary MPNST and SS tumor tissues was carried out and their expression profiles were compared with other sarcomas. A large tissue microarray (TMA) containing about 200 nerve sheath tumors was used to test for EGFR expression by IHC. Neoplasms in which the majority of samples showed high expression by IHC included MPNST (83% of NF1- associated and 77% of sporadic), 73% of plexiform neurofibroma, 100% diffuse neurofibroma and 93% of SS.