Diffuse midline glioma of the cervical spinal cord with H3 K27M genotype phenotypically mimicking anaplastic ganglioglioma: a case report and review of the literature

被引：16

作者：

Kraus, Theo F. J. ^{[1
]}

Machegger, Lukas ^{[2
]}

Poeppe, Johannes ^{[3
]}

Zellinger, Barbara ^{[1
]}

Dovjak, Eva ^{[1
]}

Schlicker, Hans U. ^{[1
]}

Schwartz, Christoph ^{[3
]}

Ladisich, Barbara ^{[3
]}

Spendel, Mathias ^{[3
]}

Kral, Michael ^{[3
]}

Reinhardt, Annekathrin ^{[4
,5
]}

Winkler, Peter A. ^{[3
]}

Sotlar, Karl ^{[1
]}

机构：

[1] Paracelsus Med Univ, Univ Hosp Salzburg, Inst Pathol, Mullner Hauptstr 48, A-5020 Salzburg, Austria

[2] Paracelsus Med Univ, Univ Hosp Salzburg, Inst Neuroradiol, Ignaz Harrer Str 79, A-5020 Salzburg, Austria

[3] Paracelsus Med Univ, Univ Hosp Salzburg, Dept Neurosurg, Ignaz Harrer Str 79, A-5020 Salzburg, Austria

[4] Heidelberg Univ, Dept Neuropathol, Neuenheimer Feld 224, D-69120 Heidelberg, Germany

[5] DKFZ, CCU Neuropathol, Neuenheimer Feld 224, D-69120 Heidelberg, Germany

来源：

BRAIN TUMOR PATHOLOGY | 2020年 / 37卷 / 03期

关键词：

Anaplastic ganglioglioma; Diffuse midline glioma; TERT C228T; PDGFR alpha Y849C; Methylome analysis; CENTRAL-NERVOUS-SYSTEM; METHYLATION-BASED CLASSIFICATION; MUTATIONS; TUMORS; H3F3A;

D O I：

10.1007/s10014-020-00365-z

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 ;

摘要：

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 PDGFR alpha 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.

引用

页码：89 / 94

页数：6

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