ATYPICAL EXTRAVENTRICULAR CYSTIC SUBEPENDYMAL GIANT CELL ASTROCYTOMA IN A CHILD WHO DID NOT FULFIL CLINICAL CRITERIA FOR TUBEROUS SCLEROSIS COMPLEX: A DIAGNOSTIC PITFALL-A CASE REPORT

Mustafa KAYA, Muhammed Ömer BAKAÇ, Çağla ÖZDEMİR, Fahri YILMAZ

Düzce Tıp Fakültesi Dergisi - 2026;28(2):246-251

Department of Neurosurgery, Sakarya University, Sakarya University Training and Research Hospital, Sakarya, Türkiye

 

Subependymal giant cell astrocytoma (SEGA) usually arises near the foramen of Monro in patients with tuberous sclerosis complex (TSC). A 14-year-old boy presented with headache and a 6.2 x 5.8 cm extraventricular, cyst-dominant hemispheric lesion containing a mildly enhancing mural nodule. Microsurgical excision was performed. Histology demonstrated mixed spindle and polygonal epithelioid/ganglioid cells in a fibrillary, microvascular stroma. Tumor cells were positive for glial fibrillary acidic protein (GFAP) and cluster of differentiation 56 (CD56); epithelial membrane antigen (EMA), inhibin, and thyroid transcription factor-1 (TTF-1) were negative, and the Ki-67 labeling index was approximately 1%. No additional major or minor feature of TSC was identified using the 2021 International TSC Consensus criteria. At 12 months, the patient was neurologically intact and headache-free. Germline or tumor TSC1/TSC2 testing and postoperative contrast-enhanced magnetic resonance imaging (MRI) were unavailable. This case highlights the integrated assessment required for pediatric cystic tumors with mural nodules.