Key result
Isolated SEGA occurs with germline non-TSC mutations despite negative TSC1 and TSC2 blood tests.
Why the study?
Isolated subependymal giant cell astrocytoma without tuberous sclerosis complex is rare, and genetic analysis for TSC1 and TSC2 mutations is typically negative.
This case report highlights the rare occurrence of isolated SEGA without TSC, associated with a germline non-TSC mutation.
May prompt expanded genetic testing in isolated SEGA despite negative TSC panels; leaves open validation in larger cohorts.
Isolated subependymal giant cell astrocytoma (SEGA) without tuberous sclerosis complex (TSC) is rare. In such cases, genetic analysis of the patient’s blood for TSC1 and TSC2 mutations is typically negative. We present a case of isolated SEGA confirmed by genetic analysis and discuss relevant literature.
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Yu et al. (2025) studied this question. Isolated subependymal giant cell astrocytoma (SEGA) can occur in patients with a germline non-TSC mutation despite negative blood genetic analysis for typical TSC1 and TSC2 mutations.
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