Identification of BAP1 Germline Mutation in a Pediatric Patient With Skull Base Meningioma.
Khadija Jadun, Harry Lesmana, Pablo F Recinos et al.
✦ AI-curated · Sources linked
Case in brief
An adolescent girl presented with a rare skull-base tumor whose imaging appearance suggested schwannoma. Testing for germline variants in NF2, LZTR1, and SMARCB1 was negative. Surgery was staged to prioritize facial nerve preservation before tumor removal. Histopathology instead showed a meningothelial meningioma, WHO grade 1. Comprehensive tumor-normal sequencing identified a germline BAP1 splice-site variant (c.122G+1 G>T) and a tier 2 somatic PBMR1 variant (c.3263_3269delinsA). The BAP1 finding informed preventive care, testing of relatives, and tailored cancer screening.
What made this case unusual
The tumor mimicked a schwannoma on imaging and was initially approached with a schwannomatosis gene panel, but pathology showed meningioma and broader sequencing identified a germline BAP1 variant.
Diagnostic / clinical pearl
When imaging, pathology, and initial targeted germline testing do not align, comprehensive tumor-normal sequencing may clarify the diagnosis and identify a germline finding relevant to family testing and cancer screening.