What are the guideline sources, guidelines and references for Schwannomatosis ?
Guideline 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 (GENTURIS 2022). 1 Guidelines 1. Screening and diagnosis Clinical presentation: recognize that life expectancy in patients with schwannomatosis is not usually affected unlike neurofibromatosis type 2. A Show 3 more 2. Diagnostic investigations Genetic testing: obtain genetic testing for the SMARCB1 or LZTR1 mutations to confirm schwannomatosis in patients with a proven schwannoma. A Show 2 more https://web.pathway.md/diseases/rec4Hv7ldRNVE7hEr 1/3 6/24/23, 3:05 PM Schwannomatosis Pathway Diagnostic imaging: obtain brain and internal auditory meatus MRI with at least 3 mm and preferably 1 mm cuts through the internal auditory meatus to rule out bilateral vestibular schwannomas (neurofibromatosis type 2) and to confirm schwannomatosis. B Show 5 more 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. C Management of pain: offer a multidisciplinary pain management focusing on symptom management and targeting pain-related disability using a biopsychosocial approach. B Show 4 more 4. Therapeutic procedures Spinal cord stimulation: consider offering spinal cord stimulation on an individual basis in a multidisciplinary setting in patients with schwannomatosis. C 5. Surgical interventions Indications for surgery: perform early surgical intervention in patients with painful schwannomas, if surgery is possible without neurological deficits. A Show 4 more 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. A 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. A 7. Follow-up and surveillance Serial clinical assessment: Obtain the following at each follow-up visit: full assessment of pain history full neurological examination https://web.pathway.md/diseases/rec4Hv7ldRNVE7hEr 2/3 6/24/23, 3:05 PM Schwannomatosis Pathway assessment of quality of life using a recognized tool (such as EQ-5D) assessment of psychological needs of the patient. A Serial imaging assessment: obtain MRI for tumor screening and surveillance. Do not obtain positron emission tomography for the diagnosis or surveillance of schwannomas. B Show 4 more References 1. D Gareth Evans, Stefania Mostaccioli, David Pang et al. ERN GENTURIS clinical practice guidelines for the diagnosis, treatment, management and surveillance of people with schwannomatosis. Eur J Hum Genet. 2022 Apr 1. Open https://web.pathway.md/diseases/rec4Hv7ldRNVE7hEr 3/3