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Schwannomatosis
Guidelines
Key sources
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 (ERN GENTURIS 2022).
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Screening and diagnosis
Diagnostic investigations
Genetic testing: as per ERN GENTURIS 2022 guidelines, obtain genetic testing for the SMARCB1 or LZTR1 mutations to confirm schwannomatosis in patients with a proven schwannoma.
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Diagnostic imaging
Medical management
Anti-angiogenic therapy: as per ERN GENTURIS 2022 guidelines, 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
Therapeutic procedures
Surgical interventions
Patient education
General counseling
As per ERN GENTURIS 2022 guidelines:
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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Follow-up and surveillance
Clinical follow-up: as per ERN GENTURIS 2022 guidelines, 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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Imaging follow-up