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Schwannomatosis

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The following summarized guidelines for the evaluation and management of schwannomatosis are prepared by our editorial team based on guidelines from the European Reference Network on Genetic Tumour Risk Syndromes (GENTURIS 2022).
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Guidelines

1.Screening and diagnosis

Clinical presentation: recognize that life expectancy in patients with schwannomatosis is not usually affected unlike neurofibromatosis type 2.
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2.Diagnostic investigations

Genetic testing: obtain genetic testing for theSMARCB1 orLZTR1 mutations to confirm schwannomatosis in patients with a proven schwannoma.
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  • Diagnostic imaging

3.Medical management

Anti-angiogenic therapy: consider initiating bevacizumab specifically in patients with symptomatic (causing pain and/or neurological deficit), inoperable multiple rapidly enlarging tumors.
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  • Management of pain

4.Therapeutic procedures

Spinal cord stimulation: consider offering spinal cord stimulation on an individual basis in a multidisciplinary setting in patients with schwannomatosis.
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5.Surgical interventions

Indications for surgery: perform early surgical intervention in patients with painful schwannomas, if surgery is possible without neurological deficits.
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6.Patient education

General counseling
Discuss the likely risks of transmission to offspring and the options for testing in pregnancy and pre-implantation diagnosis in patients with schwannomatosis at reproductive age or at transition.
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Counsel patients and at-risk offspring that the risk of transmission is 50% in patients with germline inherited variants, and < 10% in isolated cases with no family history with negative testing of LZTR1 and SMARCB1. Discuss the reduced penetrance in LZTR1.
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7.Follow-up and surveillance

Serial clinical assessment: obtain the following at each follow-up visit:
full assessment of pain history
full neurological examination
assessment of QoL using a recognized tool (such as EQ-5D)
assessment of psychological needs of the patient
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  • Serial imaging assessment