1. SEGA‐like circumscribed astrocytoma in a non‐NF1 patient, harboring molecular profile of GBM. A case report.
- Author
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Yamada, Seiji, Tanikawa, Motoki, Matsushita, Yuko, Fujinami, Ryota, Yamada, Hiroshi, Sakomi, Kaishi, Sakata, Tomohiro, Inagaki, Hidehito, Yokoo, Hideaki, Ichimura, Koichi, and Mase, Mitsuhito
- Abstract
Subependymal giant cell astrocytoma (SEGA) is a low‐grade periventricular tumor that is closely associated with tuberous sclerosis complex (TSC). SEGA typically arises during the first two decades of life and rarely arises after the age of 20–25 years. Nevertheless, it has also been reported that glioma histologically resembling SEGA, so‐called SEGA‐like astrocytoma, can arise in neurofibromatosis type 1 (NF1) patients, even in the elderly. Herein, we report a case of SEGA‐like circumscribed astrocytoma arising in the lateral ventricle of a 75‐year‐old woman. Whole‐exome sequencing revealed a somatic variant of NF1. Methylation array analysis led to a diagnosis of "methylation class glioblastoma, IDH‐wildtype, mesenchymal‐type (GBM, MES)" with a high calibrated score (0.99). EGFR amplification, CDKN2A/B homozygous deletion, chromosomal +7/−10 alterations, and TERT promoter mutation, typical molecular abnormalities usually found in GBM, were also observed. While most reported cases of SEGA‐like astrocytoma have arisen in NF1 patients, the patient was neither TSC nor NF1. Near total removal was accomplished with endoscopic cylinder surgery. At the 36‐month follow‐up, there was no tumor recurrence without adjuvant therapies. This clinical behavior did not match GBM. SEGA‐like astrocytoma of the elderly is rare, and this is the oldest case reported so far. In addition, high‐grade molecular features found in circumscribed tumor remain unclear. Further investigations among larger series are needed for clarifying the underlying molecular mechanisms. [ABSTRACT FROM AUTHOR]
- Published
- 2024
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