Beschreibung:
<jats:title>Abstract</jats:title>
<jats:p>Subependymal giant cell astrocytomas (SEGAs) are circumscribed gliomas strongly associated with tuberous sclerosis (TS). TS, a rare genetic disorder caused by inactivating mutations in either of the TSC genes (TSC1/2), leads to upregulation of the mTOR pathway and consecutive cell growth. CNS manifestations other than SEGAs include cortical tubers, white matter glioneuronal hamartomas and subependymal nodules (SENs), which, although regarded as distinct morphological phenotypes, share certain histological characteristics including ballooned astrocytes and giant ganglion-like cells. SEGAs, thought to develop from the median ganglionic eminence (MGE), are most commonly located periventricularly. However, rare cases of extraventricular SEGAs have been reported. We report a case of a cortico-subcortically located SEGA in a TS patient. A two-month-old female TS patient with multiple cortical tubers presented with treatment-resistant epilepsy. A 4cm sized tuber located in the right temporal lobe, showing a transmantle sign on MRI but no typical imaging appearance of SEGA, was surgically resected. Histological evaluation revealed typical morphological characteristics of a tuber with dysmorphic neurons, balloon cells and calcifications in the cortex and adjacent white matter. Focally, a cortico-subcortically located, well delineated area with increased cellularity and morphological features of a SEGA was found. Single mitotic figures were detectable. Immunhistochemically, these cells were strongly positive for GFAP, vimentin, and nestin. Scattered S100-, NeuN-, MAP2- and SMI32-positive cells were present. No expression of class-III-b-tubulin and TTF1a was found. pS6 was expressed in a small fraction of cells. CD34 showed a dense capillary network within the lesion. This case is consistent with prior case reports of SEGA-tissue in tubers of TS patients. However, the SEGA tissue of this case did not display TTF1a-expression, characteristic for SEGAs and considered as a marker for cells originating from the MGE, thus implying a different cellular lineage.</jats:p>