Case Report
Copyright ©The Author(s) 2022.
World J Clin Cases. Jul 16, 2022; 10(20): 6981-6990
Published online Jul 16, 2022. doi: 10.12998/wjcc.v10.i20.6981
Table 2 Diagnosis of schwannomatosis based on molecular and/or clinical diagnostic criteria according to Plotkin et al[18]
Clinical diagnosis
Combined molecular and clinical diagnosis
Exclusion criteria
≥ 2 nonintradermal schwannomas, 1 pathologically confirmed schwannoma and absence of bilateral vestibular schwannomas Or 1 pathologically confirmed schwannoma or intracranial meningioma and 1 affected first-degree relative≥ 2 pathologically confirmed schwannomas or meningiomas; ≥ 2 tumors with 22q LOH and 2 different somatic NF2 mutations Or 1 pathologically confirmed schwannoma or meningioma; Germline SMARCB1 or LZTR1 pathogenic mutationGermline pathogenic NF2 mutation; Diagnostic criteria for NF2 fulfilled; First-degree relative with NF2; Schwannomas occur exclusively in a region of previous radiation therapy