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

Genomic and Expression Profiling of Benign and Malignant Nerve Sheath Tumors in Neurofibromatosis Patients
Author:
Publisher:
Total Pages: 66
Release: 2004
Genre:
ISBN:

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.

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

Genomic and Expression Profiling of Benign and Malignant Nerve Sheath Profiling of Benign and Malignant Nerve Sheath
Author:
Publisher:
Total Pages: 27
Release: 2007
Genre:
ISBN:

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.

Genomics and Models of Nerve Sheath Tumors

Genomics and Models of Nerve Sheath Tumors
Author: Angela C. Hirbe
Publisher: MDPI
Total Pages: 172
Release: 2020-11-18
Genre: Science
ISBN: 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

Genomics and Models of Nerve Sheath Tumors
Author: Angela C. Hirbe
Publisher:
Total Pages: 172
Release: 2020
Genre:
ISBN: 9783039434909

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.

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

Genetic Evaluation of Peripheral Nerve Sheath Tumors in Neurofibromatosis Type I.
Author:
Publisher:
Total Pages: 0
Release: 2000
Genre:
ISBN:

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 preliminary findings archived dermal neurofibromas from 5 patients and 2 benign PNSTs from 2 patients have been analyzed. It was found that the genorne from the dermal neurofibromas is stable, with exceptions of allelic imbalance at 2/39 markers. There was evidence of allelic imbalance and loss of hetemzygosity (LOH) in 4/39 markers from 2 sites in 1 benign PNST. The other benign PNST showed changes in 22/39 markers including LOH at the NF locus. In contrast. no somatic inactivating deletions of the NFl gene were identified in the 38 dermal neurofibromas. Preliminary microarray expression data has been obtained prior to the beginning of this study for changes in gene expression between malignant and benign PNSTs. As part of this study, two sets of data were compared and a set of candidate genes with altered expression have been identified but not validated. Finally techniques for genotyping from microdissected tumor sections have been developed for use on MPNSTs when collected prospectively.

Diagnostic Assessment and Treatment of Peripheral Nerve Tumors

Diagnostic Assessment and Treatment of Peripheral Nerve Tumors
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.

Nerve Sheath Tumors

Nerve Sheath Tumors
Author: Richard A. Prayson
Publisher: Nova Science Publishers
Total Pages: 138
Release: 2020
Genre: Myelin sheath
ISBN: 9781536173666

There are a variety of tumors that can arise from various compartments and cellular components of peripheral nerves throughout the body. These peripheral nerve sheath tumors run the gamut from benign, fairly commonly encountered neoplasms such as schwannomas and neurofibromas to rarer, low grade neoplasms and variants such as perineuriomas, mucosal neuromas, palisaded encapsulated neuromas, granular cell tumors and nerve sheath myxomas to malignant neoplasms, so-called malignant peripheral nerve sheath tumors. They are generally classified as soft tissue neoplasms but they differ from most other tumors in this general grouping in a number of ways. Many of them are associated with genetic disorders or hereditary tumor syndromes and the majority of malignant peripheral nerve sheath tumors arise from a benign precursor tumor, neurofibroma. Their precise diagnosis and classification necessitates careful correlation with clinical and surgical data along with attention to histologic and immunohistochemical features. This text is comprised of a collection of chapters reviewing some of the myriad aspects of this group of neoplasms and includes discussions of the epithelioid variant of malignant peripheral nerve sheaths, peineuriomas arising in the colon, peripheral nerve sheath tumors arising in the oral cavity, jaw and salivary gland regions of the head and neck, and the melanotic variant of schwannoma.

Soft Tissue and Bone Tumours

Soft Tissue and Bone Tumours
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.

Modern Soft Tissue Pathology

Modern Soft Tissue Pathology
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.

Neurofibromatosis Type 1

Neurofibromatosis Type 1
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.