ERN GENTURIS clinical practice guidelines for the diagnosis, treatment, management and surveillance of people with schwannomatosis
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Published:2022-04-01
Issue:7
Volume:30
Page:812-817
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ISSN:1018-4813
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Container-title:European Journal of Human Genetics
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language:en
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Short-container-title:Eur J Hum Genet
Author:
Evans D. GarethORCID, Mostaccioli Stefania, Pang David, Fadzil O Connor Mary, Pittara Melpo, Champollion Nicolas, Wolkenstein Pierre, Thomas Nick, Ferner Rosalie E., Kalamarides Michel, Peyre Matthieu, Papi Laura, Legius Eric, Becerra Juan Luis, King AndrewORCID, Duff Chris, Stivaros StavrosORCID, Blanco IgnacioORCID
Abstract
AbstractA Guideline Group (GG) was convened from multiple specialties and patients to develop the first comprehensive schwannomatosis guideline. The GG undertook thorough literature review and wrote recommendations for treatment and surveillance. A modified Delphi process was used to gain approval for recommendations which were further altered for maximal consensus. Schwannomatosis is a tumour predisposition syndrome leading to development of multiple benign nerve-sheath non-intra-cutaneous schwannomas that infrequently affect the vestibulocochlear nerves. Two definitive genes (SMARCB1/LZTR1) have been identified on chromosome 22q centromeric to NF2 that cause schwannoma development by a 3-event, 4-hit mechanism leading to complete inactivation of each gene plus NF2. These genes together account for 70–85% of familial schwannomatosis and 30–40% of isolated cases in which there is considerable overlap with mosaic NF2. Craniospinal MRI is generally recommended from symptomatic diagnosis or from age 12–14 if molecularly confirmed in asymptomatic individuals whose relative has schwannomas. Whole-body MRI may also be deployed and can alternate with craniospinal MRI. Ultrasound scans are useful in limbs where typical pain is not associated with palpable lumps. Malignant-Peripheral-Nerve-Sheath-Tumour-MPNST should be suspected in anyone with rapidly growing tumours and/or functional loss especially with SMARCB1-related schwannomatosis. Pain (often intractable to medication) is the most frequent symptom. Surgical removal, the most effective treatment, must be balanced against potential loss of function of adjacent nerves. Assessment of patients’ psychosocial needs should be assessed annually as well as review of pain/pain medication. Genetic diagnosis and counselling should be guided ideally by both blood and tumour molecular testing.
Funder
DH | NIHR | Health Services Research Programme
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Reference38 articles.
1. Dhamija R, Plotkin S, Asthagiri A, Messiaen L, Babovic-Vuksanovic D. Schwannomatosis. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, et al. editors. GeneReviews((R)). Seattle (WA): University of Washington, Seattle University of Washington, Seattle. GeneReviews is a registered trademark of the University of Washington, Seattle. All rights reserved.; 1993. 2. Evans DG, Bowers NL, Tobi S, Hartley C, Wallace AJ, King AT, et al. Schwannomatosis: a genetic and epidemiological study. J Neurol Neurosurg Psychiatry. 2018;89:1215–9. 3. Matsuo A, Tooyama I, Akiguchi I, Kimura J, Kameyama M. A case of schwannomatosis–clinical, pathological and biochemical studies. Rinsho Shinkeigaku. 1991;31:742–5. 4. Iwabuchi S, Tanita T, Koike K, Fujimura S. Familial neurilemmomatosis: report of a case. Surg Today. 1993;23:816–9. 5. MacCollin M, Woodfin W, Kronn D, Short MP. Schwannomatosis: a clinical and pathologic study. Neurology. 1996;46:1072–9.
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