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Diffuse midline glioma of the cervical spinal cord with H3 K27M genotype phenotypically mimicking anaplastic ganglioglioma: a case report and review of the literature.
Kraus, TFJ; Machegger, L; Pöppe, J; Zellinger, B; Dovjak, E; Schlicker, HU; Schwartz, C; Ladisich, B; Spendel, M; Kral, M; Reinhardt, A; Winkler, PA; Sotlar, K;
Brain Tumor Pathol. 2020; 37(3): 89-94.
Originalarbeiten (Zeitschrift)


Kral Michael
Kraus Theo
Ladisich Barbara
Machegger Lukas
Pöppe Johannes
Reinhardt Annette
Schwartz Christoph
Sotlar Karl
Spendel Mathias
Winkler Peter A.
Zellinger Barbara


Here, we report on a 28-year old male patient presenting with neck and shoulder pain, dysesthesia of all four limbs and hypesthesia of both hands, without motor deficits. Magnetic resonance imaging showed an intradural, intramedullary mass of the cervical spinal cord of 6.4 cm length and 1.7 cm diameter. The patient underwent surgical resection. Histological and immunohistochemical evaluation showed pleomorphic glial tumor cells, mitoses, calcifications, and atypical ganglioid cells compatible with the morphology of anaplastic ganglioglioma (WHO Grade III). Extensive molecular workup revealed H3F3A K27M, TERT C228T and PDGFRα Y849C mutations indicating poor prognosis. The H3F3A K27M mutation assigned the tumor to the molecular group of diffuse midline glioma (WHO Grade IV). Epigenome-wide methylation profiling confirmed the methylation class of diffuse midline glioma. Thus, this is a very rare case of malignant glioma with H3 K27M genotype phenotypically mimicking anaplastic ganglioglioma. This case emphasizes the importance of comprehensive morphological and molecular workup including methylome profiling for advanced patient care.

Find related publications in this database (Keywords)

Anaplastic ganglioglioma
Diffuse midline glioma
PDGFR alpha Y849C
Methylome analysis