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Washington University Experience | NEOPLASMS (GLIAL) | Subependymal Giant Cell Astrocytoma (SEGA) | 20O2 SEGA (Case 20) Ki67 20X 2
Proliferative activity in this case is minimal. (Ki67 IHC) ---- Denouement: Even though this patient has none of the stigmata of tuberous sclerosis, genomic profiling of this tumor showed a pathogenic variant in TSC2 (Exon21 p.Q785*) with a variant frequency of 36%. The NIH Methylome analysis was Subependymal Giant Cell Astrocytoma, TDC1/2 altered. The presence of a germline mutation is currently being investigated.