Management strategies for vestibular schwannomas in patients with NF2-related schwannomatosis: a systematic review.

NF2-related tumour predisposition syndrome characterised by bilateral vestibular schwannomas; this review does not address the underlying molecular mechanism.

Systematic review of management strategies for vestibular schwannomas in NF2-related schwannomatosis: of 359 records screened, 32 studies met the inclusion criteria, mostly retrospective case series. Radiosurgery was the most frequently reported modality, followed by microsurgery, with tumour control rates of 66% to 100%, 5-year control rates of 81% to 85% and hearing preservation of 33% to 67%. Microsurgical series generally involved larger tumours, with resection rates of 66% to 92%, good facial nerve outcomes in 49.6% to 83.2% of cases and variable hearing preservation; radiotherapy reported tumour control of 87% to 94%. In bevacizumab cohorts, a radiographic response was seen in roughly one-third of tumours and stable disease in about half, with rebound growth after withdrawal in a subset. The authors conclude that management remains individualised and call for prospective studies with standardised outcomes.

Synthesis written by Geno'X. For the full original abstract, please refer to the source publication.

The review pools heterogeneous retrospective series without meta-analysis: the reported ranges reflect differences in patient selection and tumour size as much as treatment efficacy, and do not support comparison between modalities. For the geneticist, the value lies in having orders of magnitude to quote when counselling families, while noting the risk of radiation-associated malignant progression, which the authors mention without quantifying. Nothing here changes the indication for or the timing of surveillance in carriers.

Analysis by Dr Thibaut Benquey