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      Nerve biopsy: Current indications and decision tools

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          Abstract

          After initial investigation of patients presenting with symptoms suggestive of neuropathy, a clinical decision is made for a minority of patients to undergo further assessment with nerve biopsy. Many nerve biopsies do not demonstrate a definitive pathological diagnosis and there is considerable cost and morbidity associated with the procedure. This highlights the need for appropriate selection of patients, nerves and neuropathology techniques. Additionally, concomitant muscle and skin biopsies may improve the diagnostic yield in some cases. Several advances have been made in diagnostics in recent years, particularly in genomics. The indications for nerve biopsy have consequently changed over time. This review explores the current indications for nerve biopsies and some of the issues surrounding its use. Also included are comments on alternative diagnostic modalities that may help to supplant or reduce the use of nerve biopsy as a diagnostic test. These primarily include extraneural biopsy and neuroimaging techniques such as magnetic resonance neurography and nerve ultrasound. Finally, we propose an algorithm to assist in deciding when to perform nerve biopsies.

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          Most cited references162

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          Patisiran, an RNAi Therapeutic, for Hereditary Transthyretin Amyloidosis

          Patisiran, an investigational RNA interference therapeutic agent, specifically inhibits hepatic synthesis of transthyretin.
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            Inotersen Treatment for Patients with Hereditary Transthyretin Amyloidosis

            Hereditary transthyretin amyloidosis is caused by pathogenic single-nucleotide variants in the gene encoding transthyretin ( TTR) that induce transthyretin misfolding and systemic deposition of amyloid. Progressive amyloid accumulation leads to multiorgan dysfunction and death. Inotersen, a 2'- O-methoxyethyl-modified antisense oligonucleotide, inhibits hepatic production of transthyretin.
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              Malignant peripheral nerve sheath tumors. A clinicopathologic study of 120 cases.

              A review was done of 120 cases of malignant peripheral nerve sheath tumor (MPNST) seen during a 71-year period. Of the 120 patients, 52 were males and 68 were females with a mean age at diagnosis of 35.3 years; 12 patients were younger than 20 years. The series included 62 (52%) patients with neurofibromatosis, 13 (11%) with postradiation sarcomas, and 19 (16%) with metaplastic foci. The incidence of MPNST arising in neurofibromatosis was 4.6% in the current series and 0.001% in the general clinic population. Tumors greater than 5 cm and the presence of neurofibromatosis adversely affected the prognosis (P less than 0.05). When both features were present, survival was greatly decreased. Patients with tumor in the extremities did better than those with head or neck lesions. Metaplastic foci or previous radiation at the tumor site did not alter the prognosis. Each tumor was graded 1 to 4 on the basis of cellularity, pleomorphism, mitotic index, and necrosis. No significant correlation was noted between survival and either grade or mitotic rate. Survival was improved when total rather than subtotal resection was done. This was most marked in patients with a small lesion, which may reflect the difficulty in adequately excising large tumors. Adjuvant radiation or chemotherapy did not appear to affect survival. The MPNST is an aggressive uncommon neoplasm, and large tumor size, the presence of neurofibromatosis, and total resection are the most important prognostic indicators.
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                Author and article information

                Contributors
                matthew.kiernan@sydney.edu.au
                Journal
                Muscle Nerve
                Muscle Nerve
                10.1002/(ISSN)1097-4598
                MUS
                Muscle & Nerve
                John Wiley & Sons, Inc. (Hoboken, USA )
                0148-639X
                1097-4598
                25 February 2021
                August 2021
                : 64
                : 2 ( doiID: 10.1002/mus.v64.2 )
                : 125-139
                Affiliations
                [ 1 ] Brain and Mind Centre University of Sydney Sydney New South Wales Australia
                [ 2 ] Institute of Clinical Neuroscience, Royal Prince Alfred Hospital Sydney New South Wales Australia
                [ 3 ] Neurologische Klinik Universitätsklinikum Würzburg Würzburg Germany
                Author notes
                [*] [* ] Correspondence

                Matthew C. Kiernan, Brain and Mind Centre, The University of Sydney, 94 Mallett St, Camperdown, Sydney, NSW 2050, Australia.

                Email: matthew.kiernan@ 123456sydney.edu.au

                Author information
                https://orcid.org/0000-0002-7064-5002
                https://orcid.org/0000-0001-9054-026X
                Article
                MUS27201
                10.1002/mus.27201
                8359441
                33629393
                4a2ec229-8969-471f-aceb-4d3b36be0093
                © 2021 The Authors. Muscle & Nerve published by Wiley Periodicals LLC.

                This is an open access article under the terms of the http://creativecommons.org/licenses/by-nc-nd/4.0/ License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non‐commercial and no modifications or adaptations are made.

                History
                : 04 February 2021
                : 15 December 2019
                : 06 February 2021
                Page count
                Figures: 2, Tables: 4, Pages: 15, Words: 13957
                Categories
                Invited Review
                Invited Reviews
                Custom metadata
                2.0
                August 2021
                Converter:WILEY_ML3GV2_TO_JATSPMC version:6.0.5 mode:remove_FC converted:12.08.2021

                Neurosciences
                decision aid,indications for biopsy,nerve biopsy,neuropathology,vasculitic neuropathy

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