Institute of Neuropathology, University Hospital Bonn, Venusberg-Campus 1, 53127 Bonn, Germany.
Division of Neurooncology, Department of Neurology, University Hospital Bonn, Bonn, Germany; Tumor Initiation and Maintenance Programme, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, USA.
Pathol Res Pract. 2023 Apr;244:154399. doi: 10.1016/j.prp.2023.154399. Epub 2023 Mar 7.
Gliosarcoma is a rare histopathological subtype of glioblastoma. Metastatic spreading is unusual. In this report, we illustrate a case of gliosarcoma with extensive extracranial metastases with confirmation of histological and molecular concordance between the primary tumor and a metastatic lesion of the lung. Only the autopsy revealed the extent of metastatic spread and the hematogenous pattern of metastatic dissemination. Moreover, the case bared a familial coincidence of malignant glial tumors as the patient's son was diagnosed with a high-grade glioma shortly after the patient's death. By molecular analysis (Sanger and next generation panel sequencing), we could confirm that both patient's tumors carried mutations in the TP53 gene. Interestingly, the detected mutations were located in different exons. Altogether, this case draws attention to the fact that sudden clinical aggravation could be caused by the rare phenomenon of metastatic spread and should therefore be always taken into consideration, even at an early disease stage. Furthermore, the presented case highlights the contemporary value of autoptic pathological examination.
胶质肉瘤是胶质母细胞瘤的一种罕见组织病理学亚型。转移性扩散并不常见。在本报告中，我们展示了一例广泛颅外转移的胶质肉瘤病例，原发性肿瘤和肺部转移病变的组织学和分子一致性得到证实。只有尸检揭示了转移扩散的程度和转移播散的血源性模式。此外，该病例还存在恶性神经胶质瘤的家族巧合，因为患者的儿子在患者去世后不久被诊断出患有高级别胶质瘤。通过分子分析（Sanger 和下一代 panel 测序），我们可以确认两位患者的肿瘤均携带 TP53 基因突变。有趣的是，检测到的突变位于不同的外显子中。总的来说，该病例引起了人们的关注，即罕见的转移性扩散现象可能导致突然的临床恶化，因此即使在疾病早期也应始终考虑到这一点。此外，所呈现的病例强调了尸检病理检查的当代价值。
