Table 3.

Genes of Interest in the Differential Diagnosis of NF2-Related Schwannomatosis

GeneDisorderMOIClinical Features of Disorder
Overlapping w/NF2Distinguishing from NF2
DGCR8 DGCR8-related schwannomatosis 1ADMultiple schwannomas & thyroid adenomasNo vestibular schwannomas
LZTR1 2LZTR1-related schwannomatosisADUnilateral vestibular schwannoma & other schwannomasNo intradermal schwannoma plaques, cataract, or ependymoma
NF1 Neurofibromatosis 1 ADDumbbell configuration of spinal tumorsIntellectual/learning disability, Lisch nodules, & café au lait macules
SMARCB1 SMARCB1-related schwannomatosisADMultiple schwannomas &, less frequently, meningiomas 3No vestibular schwannomas; no intradermal schwannoma plaques, cataract, or ependymoma

AD = autosomal dominant; MOI = mode of inheritance; NF2 = NF2-related schwannomatosis

1.

DGRC8 has been recognized as a fourth schwannomatosis-related gene [Nogué et al 2022].

2.

Smith et al [2017] found that for individuals with a unilateral vestibular schwannoma and additional non-intradermal schwannomas, a constitutional LZTR1 pathogenic variant is a significant possibility.

3.

The great majority of individuals with multiple meningiomas do not have a SMARCB1 pathogenic variant; likewise, most individuals with a germline SMARCB1 pathogenic variant do not develop meningiomas [Hadfield et al 2010, Evans et al 2018].

From: NF2-Related Schwannomatosis

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