Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2022 Aug 19;10(1):119.
doi: 10.1186/s40478-022-01419-3.

Disseminated diffuse midline gliomas, H3K27-altered mimicking diffuse leptomeningeal glioneuronal tumors: a diagnostical challenge!

Arnault Tauziède-Espariat  1   2 , Aurore Siegfried  3   4 , Emmanuelle Uro-Coste  3   4 , Yvan Nicaise  4 , David Castel  5   6 , Annick Sevely  7 , Marion Gambart  8 , Sergio Boetto  9 , Lauren Hasty  10 , Alice Métais  10   11 , Fabrice Chrétien  10   11 , Joseph Benzakoun  11   12 , Stéphanie Puget  13   14 , Jacques Grill  11   15 , Volodia Dangouloff-Ros  16 , Nathalie Boddaert  16 , Azadeh Ebrahimi  17 , Pascale Varlet  10   11 ; RENOCLIP-LOC Network
Affiliations

Disseminated diffuse midline gliomas, H3K27-altered mimicking diffuse leptomeningeal glioneuronal tumors: a diagnostical challenge!

Arnault Tauziède-Espariat et al. Acta Neuropathol Commun. .
No abstract available

PubMed Disclaimer

Conflict of interest statement

The authors declare that they have no conflict of interest directly related to the topic of this article.

Figures

Fig. 1
Fig. 1
Radiological features. Case #1 A Axial FLAIR brain MRI shows a hyperintense infiltrative lesion of the right thalamus extended to the right lateral ventricle. B Axial contrast-enhanced T1-weighted brain MRI shows a heterogeneous enhancement after gadolinium injection. C Axial T2-weighted brain MRI shows other nodular FLAIR hyperintensities of the cerebellum (arrows). D Sagittal T2-weighted spine MRI shows a hyperintense peripheral lesion of the spinal cord (arrow). Case #2 E Axial FLAIR-weighted brain MRI shows a hyperintense lesion of the right thalamus extended to the third ventricle and the right hippocampus. F Axial contrast-enhanced T1-weighted brain MRI shows a heterogeneous enhancement of this lesion. G Axial contrast-enhanced T1-weighted brain MRI shows an intraventricular localization in the fourth ventricle (arrow). H Sagittal contrast-enhanced T1-weighted spine MRI shows multiple spinal leptomeningeal lesions. Case #3 I Sagittal T2-weighted spine MRI shows a thoracic hyperintense leptomeningeal lesion. J Sagittal T2-weighted lumbar MRI shows multiple lumbar intradural lesions, attached to nerve roots and in the lower end of the dural sac. K Sagittal and L Axial contrast-enhanced T1-weighted lumbar MRI show an enhancement of these lesions. FLAIR: Fluid Attenuated Inversion Recovery
Fig. 2
Fig. 2
Histopathological and molecular features. Case #1 A A glial proliferation with oligo-like features and one microcalcification (HPS, magnification × 400). B Diffuse expression of Olig2 (magnification × 400). C Diffuse synaptophysin immunoreactivity without true neuropil islands (magnification × 400). D 1p deletion by FISH analysis (green signal for 1q25 and orange signal for 1p36, magnification × 400). E EZHIP overexpression in all tumor cells (magnification × 400). Case #2 F A glial proliferation with astrocytic features (magnification × 400). G Diffuse expression of Olig2 (magnification × 400). H Diffuse synaptophysin immunoreactivity without true neuropil islands (magnification × 400). I Loss of the trimethylation H3K27me3 in tumor cells (magnification × 400). J EZHIP overexpression in all tumor cells (magnification × 400). Case #3 K A high-grade glial proliferation with several mitoses and necrosis (magnification × 400). L Immunoreactivity for neurofilament in a subset of tumor cells (magnification × 400). N Loss of the trimethylation H3K27me3 in tumor cells (magnification × 400). O H3K27M immunopositivity in all tumor cells (magnification × 400). Black scale bars represent 50 μm
See this image and copyright information in PMC

References

    1. Louis DN, Perry A, Wesseling P, Brat DJ, Cree IA, Figarella-Branger D, et al. The 2021 WHO Classification of Tumors of the Central Nervous System: a summary. Neuro Oncol. 2021;23:1231–1251. doi: 10.1093/neuonc/noab106. - DOI - PMC - PubMed
    1. Rodriguez D, Calmon R, Aliaga ES, Warren D, Warmuth-Metz M, Jones C, et al. MRI and molecular characterization of pediatric high-grade midline thalamic gliomas: the HERBY phase II trial. Radiology. 2022;304:174–182. doi: 10.1148/radiol.211464. - DOI - PubMed
    1. Dyson K, Rivera-Zengotita M, Kresak J, Weaver K, Stover B, Fort J, et al. FGFR1 N546K and H3F3A K27M mutations in a diffuse leptomeningeal tumour with glial and neuronal markers. Histopathology. 2016;69:704–707. doi: 10.1111/his.12983. - DOI - PubMed
    1. Nambirajan A, Suri V, Kedia S, Goyal K, Malgulwar PB, Khanna G, et al. Paediatric diffuse leptomeningeal tumor with glial and neuronal differentiation harbouring chromosome 1p/19q co-deletion and H3.3 K27M mutation: unusual molecular profile and its therapeutic implications. Brain Tumor Pathol. 2018;35:186–191. doi: 10.1007/s10014-018-0325-0. - DOI - PubMed
    1. Deng MY, Sill M, Chiang J, Schittenhelm J, Ebinger M, Schuhmann MU, et al. Molecularly defined diffuse leptomeningeal glioneuronal tumor (DLGNT) comprises two subgroups with distinct clinical and genetic features. Acta Neuropathol (Berl) 2018;136:239–253. doi: 10.1007/s00401-018-1865-4. - DOI - PubMed

MeSH terms