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Genomics and Models of Nerve Sheath Tumors

2020-11-18 Science
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Release : 2020-11-18
Genre : Science
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Book Rating : 896/5 ( reviews)

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Book Synopsis Genomics and Models of Nerve Sheath Tumors by : Angela C. Hirbe

Download or read book Genomics and Models of Nerve Sheath Tumors written by Angela C. Hirbe. This book was released on 2020-11-18. 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.

Genomics and Models of Nerve Sheath Tumors

2020
Download Genomics and Models of Nerve Sheath Tumors PDF Online Free

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Release : 2020
Genre :
Kind : eBook
Book Rating : 909/5 ( reviews)

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Book Synopsis Genomics and Models of Nerve Sheath Tumors by : Angela C. Hirbe

Download or read book Genomics and Models of Nerve Sheath Tumors written by Angela C. Hirbe. This book was released on 2020. 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.

Multidisciplinary Approach to Neurofibromatosis Type 1

2020-06-02 Medical
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Release : 2020-06-02
Genre : Medical
Kind : eBook
Book Rating : 508/5 ( reviews)

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Book Synopsis Multidisciplinary Approach to Neurofibromatosis Type 1 by : Gianluca Tadini

Download or read book Multidisciplinary Approach to Neurofibromatosis Type 1 written by Gianluca Tadini. This book was released on 2020-06-02. 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.

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

2002
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Release : 2002
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Book Rating : /5 ( reviews)

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Book Synopsis Genetic Evaluation of Peripheral Nerve Sheath Tumors in Neurofibromatosis Type I. by :

Download or read book Genetic Evaluation of Peripheral Nerve Sheath Tumors in Neurofibromatosis Type I. written by . This book was released on 2002. 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.

Neurofibromatosis Type 1

2013-01-29 Medical
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Release : 2013-01-29
Genre : Medical
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Book Rating : 644/5 ( reviews)

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Book Synopsis Neurofibromatosis Type 1 by : Meena Upadhyaya

Download or read book Neurofibromatosis Type 1 written by Meena Upadhyaya. This book was released on 2013-01-29. 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.

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