Approach to genetic testing for NF2/SWN in the patient who meets clinical criteria

Proposed approach to NF2/SWN genetic testing. The above diagram is meant to serve as a potential approach to genetic testing in schwannomatosis predisposition syndromes. Testing recommendations are at the discretion of the clinician based on specific patient manifestations and family history. Referrals to NF2/SWN specialists may include medical geneticists or other providers experienced in evaluating and diagnosing these disorders.

NF2: NF2-related schwannomatosis; SWN: schwannomatosis; NF2: NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor; SMARCB1: SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1; LZTR1: leucine zipper like transcription regulator 1; VUS: variant of unknown significance.

* Mosaic cases of NF2 and SWN are well documented. Typically, testing begins with blood and may require other affected tissues (eg, two independent tumors) to identify a common variant and to distinguish between a germline and a somatic variant. It is important to note that individuals with previously normal genetic testing may be mosaic and one should confirm testing was done using the latest technology and include affected tissue whenever possible.

¶ In cases where tumor/tissue testing is indicated, paraffin-embedded specimens may not be accepted. Consult the testing laboratory for specifics regarding sample requirements.

Δ An uninformative genetic test (ie, negative or VUS) does not exclude the diagnosis of NF2 or SWN, and a referral to an NF2/SWN specialist should be considered.

From: Radtke HB, Bergner AL, Goetsch AL, et al. Genetic counseling for neurofibromatosis 1, neurofibromatosis 2, and schwannomatosis–Practice resource of the National Society of Genetic Counselors. J Genet Cous 2020; 29(5):692-714. https://onlinelibrary.wiley.com/doi/10.1002/jgc4.1303. Copyright © 2020 National Society of Genetic Counselors. Modified with permission of John Wiley & Sons Inc. This image has been provided by or is owned by Wiley. Further permission is needed before it can be downloaded to PowerPoint, printed, shared or emailed. Please contact Wiley's permissions department either via email: [email protected] or use the RightsLink service by clicking on the 'Request Permission' link accompanying this article on Wiley Online Library (https://onlinelibrary.wiley.com/).

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Approach to genetic testing for NF2/SWN in the patient who meets clinical criteria