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Case Reports
. 2021 Aug 30;9(9):e04544.
doi: 10.1002/ccr3.4544. eCollection 2021 Sep.

Genotypical glioblastoma of the frontal lobe mimicking ganglioglioma: A case report and review of the literature

Theo F J Kraus  1 , Johannes Pöppe  2 , Lukas Machegger  3 , Barbara Zellinger  1 , Eva Dovjak  1 , Hans U Schlicker  1 , Christoph Schwartz  2 , Barbara Ladisich  2 , Mathias Spendel  2 , Abdul R Al-Schameri  2 , Peter A Winkler  2 , Karl Sotlar  1
Affiliations
Case Reports

Genotypical glioblastoma of the frontal lobe mimicking ganglioglioma: A case report and review of the literature

Theo F J Kraus et al. Clin Case Rep. .

Abstract

This case of severe phenotype-genotype mismatch brain tumor morphologically mimicking benign ganglioglioma emphasizes the urgent need for advanced molecular profiling in brain tumor diagnosis in the era of sophisticated molecular profiling.

Keywords: DNA methylation analysis; PTPN11 G60R; TERT C228T; ganglioglioma; glioblastoma.

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Conflict of interest statement

None declared.

Figures

FIGURE 1
FIGURE 1
Radiological findings. Pre‐surgical MRI showed an intracranial mass of the right frontal parafalxial cortex with subtle, diffuse contrast enhancement A, B, with FET‐PET CT showing pathological uptake of the tracer with SUVmax of 3,4 C, D. Three‐month follow‐up imaging showed no contrast enhanced E,F, but an increased FET‐uptake G, H. Last follow‐up MRI (10 months after initial tumor resection) revealed progressive disease with midline infiltration and contralateral hemisphere affection typical for glioblastoma I‐L
FIGURE 2
FIGURE 2
Histological and immunohistochemical findings. In H&E stained sections the tumor showed glial and neuronal elements with increased cellularity and pleomorphic neoplastic cells with only sparce mitoses, dystrophic calcifications A, extensive perivascular lymphoid infiltrates (arrow, B), and intermingled atypical ganglionic cells (arrows, C). Immunohistochemical stains showed GFAP D, and MAP2 E, positive tumor cells. Dysmorphic ganglionic cells were positive for NeuN F, and synaptophysin G, with some CD34 positive tumor cells H. Nuclear expression of ATRX was retained I. There was no nuclear accumulation of the P53 protein J. Ki67 proliferation index was low with only 5% positive cells K, and there were only single PHH3 (H3S10p) positive cells L. There was no mutant IDH1 R132H M, H3.3 K27M N, and BRAF V600E protein detectable O. Scale bar: 500 µm A, 100 µm B, 50 µm C‐O
FIGURE 3
FIGURE 3
Molecular genetic findings. Mutation analysis using NGS and Sanger sequencing showed TERT (C228T) promoter mutation and a PTPN11 p.G60R mutation A, with no mutations in all other 52 analyzed genes B. Methylation profiling applying the Illumina Infinium EPIC bead chip allocated the tumor to the methylation class of glioblastoma, subclass mesenchymal C. Mutations are indicated using “*” A, wild type gene status is indicated by green color, mutant gene status is indicated by red color B
See this image and copyright information in PMC

References

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