Diffusely Infiltrating Gliomas With Poor Prognosis, TERT Promotor Mutations, and Histological Anaplastic Pleomorphic Xanthoastrocytoma-Like Appearance Classify as Mesenchymal Type of Glioblastoma, IDH-wildtype by Methylation Analysis

被引：0

作者：

Tsukamoto, Yoshihiro ^{[1
]}

Natsumeda, Manabu ^{[1
]}

Takahashi, Haruhiko ^{[1
,2
]}

On, Jotaro ^{[1
,2
]}

Seto, Hiroki ^{[1
]}

Saito, Taiki ^{[1
]}

Shibuya, Kohei ^{[1
]}

Ogura, Ryosuke ^{[1
]}

Ito, Junko ^{[2
]}

Okada, Masayasu ^{[1
]}

Oishi, Makoto ^{[1
]}

Shimizu, Hiroshi ^{[2
]}

Okamoto, Kouichirou ^{[3
]}

Kakita, Akiyoshi ^{[2
]}

Fujii, Yukihiko ^{[1
]}

机构：

[1] Niigata Univ, Brain Res Inst, Dept Neurosurg, 1-757 Asahimachi Dori,Chuo Ku, Niigata, Niigata 9518585, Japan

[2] Niigata Univ, Brain Res Inst, Dept Pathol, Niigata, Japan

[3] Niigata Univ, Brain Res Inst, Dept Translat Res, Niigata, Japan

来源：

NEUROSURGERY PRACTICE | 2023年 / 4卷 / 02期

关键词：

Glioblastoma; Anaplastic pleomorphic xanthoastrocytoma; TERT promotor; MRI; CDKN2A/2B; FEATURES; BRAF; CLASSIFICATION; EXPRESSION; PATTERNS; OUTCOMES; MARKERS; GRADE;

D O I：

10.1227/neuprac.0000000000000040

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

BACKGROUND: Pleomorphic xanthoastrocytoma (PXA) (World Health Organization grade II) is classified as a relatively benign and circumscribed glioma; however, anaplastic PXA (APXA, World Health Organization grade III) has a poorer prognosis, and differentiating from glioblastoma can be difficult both histologically and molecularly. OBJECTIVE: To describe the clinical, pathological, and molecular characteristics of diffusely infiltrating gliomas with histological APXA-like features. METHODS: Four diffusely infiltrating gliomas in adult patients histologically diagnosed as APXAs at a single institute were retrospectively reviewed. We analyzed their clinical, radiological, pathological, genetic, epigenetic, and prognostic characteristics. RESULTS: All tumors histologically showed classical characteristic PXA-like appearance with BRAF wildtype, mitotic figure, necrosis, and an increased mindbomb E3 ubiquitin-protein ligase 1 labeling index and were initially diagnosed as APXAs; moreover, they underwent high-grade glioma treatment. Three patients with TERT promotor mutations died within 18 months. These patients' MRIs showed widespread infiltrating fluid-attenuated inversion recovery hyperintense lesions and Gd-enhancing lesions in the bilateral cerebral hemispheres in 2 of the patients. Contrastingly, a patient with the wildtype TERT promotor has survived for 2.5 years without recurrence. MRI revealed an unilateral fluid-attenuated inversion recovery hyperintense and Gd-enhancing lesion. By methylation classifier analysis, all 4 cases clustered toward GBM, IDH-wildtype, mesenchymal type, although one was deemed unclassifiable due to a low calibrated score. CONCLUSION: In diffusely infiltrating gliomas showing histological characteristics of APXA, methylation classification should be performed as these tumors may be difficult to differentiate between glioblastoma, IDH-wildtype by histological or genetic analysis. The aggressive nature of these tumors should be expected, especially in cases that are BRAF-wildtype and TERT promotor mutant.

引用

页数：11