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.

中文翻译：

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H3 K27M基因型表型模仿间变性神经节神经胶质瘤的颈脊髓弥漫性中线神经胶质瘤：病例报告和文献复习。

在这里，我们报道了一位28岁的男性患者，其表现为颈部和肩部疼痛，四肢全部感觉不良和双手过敏，无运动功能障碍。磁共振成像显示颈脊髓的硬膜内，髓内块长为6.4 cm，直径为1.7 cm。该患者接受了手术切除。组织学和免疫组织化学评估显示多形性胶质瘤细胞，有丝分裂，钙化和非典型神经节细胞与间变性神经节胶质瘤的形态相容（WHO III级）。广泛的分子后处理，发现H3F3A K27M，TERT C228T和PDGFRα Y849C突变表明预后不良。该H3F3AK27M突变将肿瘤归为弥散性中线神经胶质瘤的分子组（WHO IV级）。整个表观基因组的甲基化分析证实了弥散中线神经胶质瘤的甲基化类别。因此，这是H3 K27M基因型在表型上类似于间变性神经节神经胶质瘤的恶性神经胶质瘤的极少数情况。该案例强调了全面的形态学和分子后处理（包括甲基化基因组分析）对于高级患者护理的重要性。