背景:原发性脊髓肿瘤,尤其是原发性多形性脊髓胶质母细胞瘤(PSC-GBM),非常罕见,占所有脊柱肿瘤的不到1.5%。他们的不频繁和积极但不典型的表现使诊断具有挑战性。在不确定的情况下,组织诊断的手术方法通常是最佳的。
方法:一名76岁男性,临床病史进展迅速,肢体无力恶化,尿潴留,和周期性大便失禁以及神经轴成像的弥漫性变化。病人,最初诊断为亚急性多发性神经病,接受了多轮类固醇和静脉注射免疫球蛋白治疗,但临床无改善。活检组织的组织病理学检查得出了梭形细胞肿瘤的初步诊断。在作者机构对所有神经病理学标本常规进行下一代测序(NGS),在困难的情况下进行甲基化分析。最终,NGS和甲基化分析结果对于GBM的综合最终诊断至关重要。
结论:PSC-GBM是一种罕见但高度侵袭性的肿瘤。长时间的背痛,神经快速衰退,影像学改变需要考虑病灶活检以进行精确的疾病表征。在不确定的情况下,NGS已被证明对临床澄清和诊断非常有价值,强调其对于指导适当治疗策略的综合诊断的重要性。
BACKGROUND: Primary spinal cord tumors, especially primary spinal cord glioblastoma multiforme (PSC-GBM), are exceptionally rare, accounting for less than 1.5% of all spinal tumors. Their infrequency and aggressive yet atypical presentation make diagnosis challenging. In uncertain cases, a surgical approach for tissue diagnosis is often optimal.
METHODS: A 76-year-old male presented with a rapidly progressing clinical history marked by worsening extremity weakness, urinary retention, and periodic fecal incontinence alongside diffuse changes on neuraxis imaging. The patient, in whom subacute polyneuropathy was initially diagnosed, received multiple rounds of steroids and intravenous immunoglobulin without clinical improvement. Histopathological review of the biopsy tissue yielded an initial diagnosis of spindle cell neoplasm. Next-generation sequencing (NGS) is done routinely on all neuropathology specimens at the authors\' institution, and methylation profiling is pursued in difficult cases. Ultimately, NGS and methylation profiling results were essential to an integrated final diagnosis of GBM.
CONCLUSIONS: PSC-GBM is a rare but highly aggressive occurrence of this tumor. Prolonged back pain, rapid neurological decline, and imaging changes warrant the consideration of lesional biopsy for precise disease characterization. In inconclusive cases, NGS has proved invaluable for clinical clarification and diagnosis, underscoring its importance for integrated diagnoses in guiding appropriate treatment strategies.