Clinical and Molecular Features of BAP1-Mutated Meningiomas: Case Series.
Ivan Pradilla, Rasha Alfattal, Susan L McGovern et al.
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Case in brief
This report details three cases of BAP1-deficient meningiomas with distinct clinical outcomes. A 44-year-old woman with a somatic BAP1 mutation presented with recurrent spinal meningiomatosis despite low-grade histology, necessitating multiple interventions. A 22-year-old man with a germline mutation had a WHO grade 3 meningioma but remained progression-free after treatment. A 57-year-old man with a missense mutation and grade 2 meningioma had a favorable outcome post-surgery.
What made this case unusual
The case highlights that truncating somatic mutations can lead to aggressive tumor behavior, independent of histological grading, which is atypical for meningiomas.
Diagnostic / clinical pearl
Clinicians should recognize that BAP1 mutations, particularly truncating ones, may indicate a higher risk of aggressive disease, regardless of histological grade.
Why it matters
This case series suggests the need for incorporating BAP1 mutation status into risk stratification and future WHO classification of meningiomas.