Download or read book Genomics and Models of Nerve Sheath Tumors written by Angela C. Hirbe and published by MDPI. This book was released on 2020-11-18 with total page 172 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
Download or read book Genomics and Models of Nerve Sheath Tumors written by Angela C. Hirbe and published by . This book was released on 2020 with total page 172 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
Download or read book Multidisciplinary Approach to Neurofibromatosis Type 1 written by Gianluca Tadini and published by Springer Nature. This book was released on 2020-06-02 with total page 316 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
Download or read book Genetic Evaluation of Peripheral Nerve Sheath Tumors in Neurofibromatosis Type I written by and published by . This book was released on 2002 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
Download or read book Neurofibromatosis Type 1 written by Meena Upadhyaya and published by Springer Science & Business Media. This book was released on 2013-01-29 with total page 711 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
Download or read book Genomic and Expression Profiling of Benign and Malignant Nerve Sheath Tumors in Neurofibromatosis Patients written by and published by . This book was released on 2004 with total page 66 pages. Available in PDF, EPUB and Kindle. Book excerpt: The goal of this project is to identify genes involved in the malignant transformation of neurofibromas to malignant peripheral nerve sheath tumors using expression profiling and array-based comparative genomic hybridization. The significance of the genes will be validated on much larger numbers of cases using antibodies and in situ hybridization probes on tissue microarrays (TMAs). Genes will be further studied in in vitro experiments using cell lines from nerve sheath tumors. While the grant starting date was on Nay 1, 2003 authorization to work with human subjects was not obtained until April 1, 2004. Therefore this "annual report" will only describe the actual work performed in April 2004. Nevertheless the following progress has been made in the past year: 1. The number of cases of nerve sheath tumors available will be more than sufficient to perform the first aim of this study. 2. We have started to run expression profiling and gene microarrays on a number of nerve sheath tumors and since April 1, 2004 have analyzed six malignant peripheral nerve sheath tumors and five schwannomas. 3. We have gained much experience with in situ hybridization on TMAs. This experience will enormously benefit this project.
Download or read book Diagnostic Assessment and Treatment of Peripheral Nerve Tumors written by Fernando Guedes and published by Springer Nature. This book was released on 2021-08-24 with total page 380 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
Download or read book Genomic and Expression Profiling of Benign and Malignant Nerve Sheath Profiling of Benign and Malignant Nerve Sheath written by and published by . This book was released on 2007 with total page 27 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
Download or read book Exploiting Neurofibromatosis Type 1 associated Cancer Models to Identify Novel Therapeutic Targets written by Cory Matthew Johannessen and published by . This book was released on 2008 with total page 376 pages. Available in PDF, EPUB and Kindle. Book excerpt: Further, we present data suggesting that mTOR inhibitors can be used as an effective therapy for NF1 -associated malignant peripheral nerve sheath tumors in a pre-clinical, genetically engineered animal model. Pre-clinical long term efficacy studies using this model also reveal the emergence of rapamycin-refractory lesions, an observation that may prove crucial to effective long-term treatment of this disease in the clinic. Finally, we show that the Ras/Raf/MEK/ERK/RSK signaling cascade plays a role in mTOR regulation following loss of Nf1 and/or activation of specific growth factor receptors, and suggest a novel role for RSK2 as a negative regulator of mTOR signaling. Together, these data highlight the potential of rapamycin as a therapy for neurofibromatosis type 1-associated malignant peripheral nerve sheath tumors as well as the feasibility of using genetic animal models as a pre-clinical testing ground for novel therapeutic strategies.
Download or read book Diseases of the Chest Breast Heart and Vessels 2019 2022 written by Juerg Hodler and published by Springer. This book was released on 2019-02-19 with total page 238 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
Download or read book Modern Soft Tissue Pathology written by Markku Miettinen and published by Cambridge University Press. This book was released on 2010-06-14 with total page 1117 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
Download or read book FNA Cytology of Soft Tissue and Bone Tumors written by H.A. Domanski and published by Karger Medical and Scientific Publishers. This book was released on 2017-07-27 with total page 202 pages. Available in PDF, EPUB and Kindle. Book excerpt: Fine-needle aspiration cytology (FNAC) has been commonly used to follow up on previously treated sarcomas or to confirm soft tissue and bone metastases of carcinomas, melanomas or lymphomas. Its role as the first-line approach in the diagnosis of primary soft tissue and bone tumors has increased due to progress of less invasive diagnostic procedures and the growing availability of diagnostic ancillary tests. This comprehensive and richly-illustrated volume presents cytomorphology of all common neoplastic soft tissue and bone lesions but also of rare tumors largely described in case reports. Key points for cytological features, differential diagnosis, and the use of ancillary tests are discussed and illustrated in order to facilitate the diagnostic work-up in FNA samples. The volume is organized on the basis of the most recent WHO classification used in surgical pathology in order to provide a practical guide for modern cytologic diagnosis of surgical soft tissue and bone pathology. It is aimed mainly at surgical pathologists and cytopathologists, but also at orthopedic surgeons and clinical oncologists.
Download or read book Neurofibromatosis written by Vincent M. Riccardi and published by . This book was released on 1986 with total page 344 pages. Available in PDF, EPUB and Kindle. Book excerpt: A comprehensive review of the clinical and genetic aspects of a disease that affects over one million people worldwide, based on the cumulative experience of the longest continuously functioning program of its kind (Riccardi directs The Neurofibromatosis Institute, Pasadena, California--his vantage point is that of an accumulated 3,700 patient-years of direct observation and follow-up of patients with NF, and a total of 22,900 patient-years, counting from the time of birth until either death or January 1991). Thoroughly revised and updated (first edition, 1986) to include the latest advances in molecular biology and methods of treatment, and contains a glossary and extensive bibliography (well over 1,000 citations). Annotation copyrighted by Book News, Inc., Portland, OR
Download or read book Central Nervous System Tumours written by Thomas James Deeley and published by . This book was released on 1974 with total page 346 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Download or read book Tumors of the Peripheral Nervous System written by Bernd W. Scheithauer and published by American Registry of Pathology. This book was released on 1999 with total page 444 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Download or read book Pediatric Surgical Oncology written by Lewis Spitz and published by Springer Science & Business Media. This book was released on 2012-12-06 with total page 202 pages. Available in PDF, EPUB and Kindle. Book excerpt: This volume is devoted to the overall management of solid tumors in children. Recent advances in the use of monoclonal antibodies for diagnosis and possible treatment are presented. New approaches to the complete care of the child and family as well as specific developments in the treatment of defined conditions are discussed. A particular contribution deals with congential dysplasia of soft tissue. The material analyzed for this topic was taken from a unique collections of clinical cases supplemented by detailed laboratory studies.
Download or read book Peripheral Nerve Regeneration written by Giovanna Gambarotta and published by Frontiers Media SA. This book was released on 2019-12-24 with total page 302 pages. Available in PDF, EPUB and Kindle. Book excerpt:
