Table 3.

Expert recommendations for genetic testing and surveillance for NF2, schwannomatosis, and SMARCE1-related meningioma

NF2
Genetic testing1. All children presenting with either clear diagnostic criteria for NF2, including combined retinal hamartomas, or those with an NF2 tumor (any schwannoma/meningioma) presenting in childhood should undergo genetic testing of NF2, ideally in both blood and tumor if available in sporadic cases.
2. Directed testing on blood DNA by next-generation sequencing of any point mutations found in tumor will assess low-level mosaic risk in sporadic cases.
Surveillance1. Annual history and physical exam (including audiology with measurement of pure-tone thresholds and Word Recognition Scores).
2. Annual (consider twice yearly in first year since diagnosis or signs of rapid growth) brain MRI starting at 10 years of age. Screening may begin earlier in patients with high-risk genotypes or symptomatic diagnoses.
3. If baseline imaging shows no characteristic sites of involvement, reduce frequency of screening to every 2 years.
4. Protocols should include high-resolution (1–3 mm slice thickness) imaging through the internal auditory meatus, preferably in at least 2 orthogonal planes.
5. Surveillance spinal MRI is recommended at 24- to 36-month intervals beginning at 10 years of age.
6. Whole-body MRI may be obtained.
Schwannomatosis
Genetic testing1. Test for mutations in SMARCB1 and LZTR1 in children and young adults with one or more non-intradermal schwannoma, including those with VS negative for NF2.
Surveillance1. SMARCB1—baseline MRI brain and spine at diagnosis, then every 2–3 years, beginning at age 10. Consider whole-body MRI and increasing surveillance frequency if symptomatic.
2. LZTR1—baseline MRI brain and spine at diagnosis, then every 2–3 years, beginning at age 15–19 years. Consider whole-body MRI and increasing surveillance frequency if symptomatic.
SMARCE1
Surveillance1. SMARCE1—baseline MRI brain and spine at diagnosis, then every 1–2 years until the age of 18, reducing frequency to once every 5 years if no tumors are identified. If tumor is detected, increase frequency of surveillance to every 2–3 years or more frequently if patients become symptomatic.