{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,17]],"date-time":"2026-01-17T22:22:30Z","timestamp":1768688550459,"version":"3.49.0"},"reference-count":30,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2024,11,4]],"date-time":"2024-11-04T00:00:00Z","timestamp":1730678400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Neuropathology"],"published-print":{"date-parts":[[2025,4]]},"abstract":"<jats:p>Subependymal giant cell astrocytoma (SEGA) is a rare, low\u2010grade glioma typically associated with tuberous sclerosis (TS) and mutations in the TSC1 or TSC2 genes. It is characterized by an intraventricular location, an expansive growth pattern, and the expression of glial and neural markers. TTF\u20101 expression is considered a sensitive marker of SEGA, likely reflecting its origin from progenitor cells in the caudothalamic groove. We report a case of SEGA with unusual immunohistochemical and molecular features in a 20\u2010year\u2010old man with no signs or family history of TS. The tumor was located in the anterior horn of the right ventricle and obstructed the foramen of Monro. Histologically, it exhibited an expansive growth pattern and was composed of cells with ovoid nuclei and abundant eosinophilic cytoplasm. Immunohistochemically, the tumor cells were positive for GFAP and S\u2010100 protein, weakly positive for SOX2, focally positive for synaptophysin, and negative for TTF\u20101, neurofilament protein, NeuN, EMA, chromogranin, and BCOR. Scattered OLIG2\u2010positive neoplastic cells were also observed. Molecular analysis revealed no pathogenic mutations or copy number variations in the analyzed 174 genes, including <jats:italic>TSC1\/2<\/jats:italic>, except for a variant of unknown significance in <jats:italic>BAP1<\/jats:italic>. The histopathological features and immunohistochemical profile suggested SEGA, despite the absence of TTF\u20101 expression and <jats:italic>TSC1\/2<\/jats:italic> mutations. The diagnosis was confirmed by DNA methylation profiling, which assigned the tumor to the methylation class \u201csubependymal giant cell astrocytoma with <jats:italic>TSC1\/TSC2<\/jats:italic> alterations\u201d with a calibrated score of 0.95. This case highlights the potential diagnostic pitfall of SEGA lacking TTF\u20101 expression and emphasizes the importance of considering this entity in the differential diagnosis of intraventricular tumors, even in the absence of TS and characteristic molecular alterations. The existence of TTF\u20101 negative SEGAs reveals that these tumors might also derive from TTF\u20101 negative cells in the subpendymal region.<\/jats:p>","DOI":"10.1111\/neup.13013","type":"journal-article","created":{"date-parts":[[2024,11,4]],"date-time":"2024-11-04T08:10:41Z","timestamp":1730707841000},"page":"167-173","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Solitary subependymal giant cell astrocytoma lacking <scp><i>TSC1<\/i><\/scp><i>\/2<\/i> mutations and <scp>TTF<\/scp>\u20101 expression: A potential diagnostic pitfall"],"prefix":"10.1111","volume":"45","author":[{"given":"Davide","family":"Mulone","sequence":"first","affiliation":[{"name":"Department of Diagnostics and Public Health University of Verona  Verona 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