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Case Reports
. 2021 Sep;142(3):591-593.
doi: 10.1007/s00401-021-02346-8. Epub 2021 Jul 15.

Malignant gliomas with H3F3A G34R mutation or MYCN amplification in pediatric patients with Li Fraumeni syndrome

Melanie Schoof  1   2 , Uwe Kordes  1 , Alexander E Volk  3 , Sina Al-Kershi  1   2 , Catena Kresbach  1   2 , Ulrich Schüller  4   5   6
Affiliations
Case Reports

Malignant gliomas with H3F3A G34R mutation or MYCN amplification in pediatric patients with Li Fraumeni syndrome

Melanie Schoof et al. Acta Neuropathol. 2021 Sep.
No abstract available

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Figures

Fig. 1
Fig. 1
Neuropathology of malignant gliomas occurring in two LFS patients. Magnetic resonance imaging (MRI) of the two cases shows large tumors in the forebrain of both patients (a–d). H&E histology of case 1 reveals a pleomorphic glial phenotype (e), while immunohistochemistry uncovers strong expression of p53 (f) and mutant H3.3 as revealed by antibodies detecting tumor cells with H3F3A G34 R/V mutations (g). Case 2 is characterized by a rather undifferentiated tumor cell morphology (h), but similarly strong expression of p53 (i). MYCN protein is heavily expressed (j) due to a high level amplification of the MYCN gene (green signal in inset). T-SNE analysis together with a brain tumor reference cohort of glioblastoma (GBM) [3] shows the clustering of case 1 to the DNA methylation classes of glioblastoma, IDH wild type, H3.3 G34 mutant (GBM G34) and of case 2 to the methylation class of glioblastoma, IDH wild type, subclass MYCN (GBM MYCN) (k). Scale bar in e corresponds to 50 µm in e–j. Scale bar in the inset of j corresponds to 5 µm
See this image and copyright information in PMC

References

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