脑脊液肿瘤来源DNA分析有助于产后弥漫性中线胶质瘤的诊断。

文献信息

中文摘要

背景： 妊娠期或产后诊断的胶质瘤给诊断和管理带来挑战。神经系统症状可能被归因于妊娠或产后的生理变化，从而可能延误评估。当病变位于高风险部位，如脑干时，组织活检通常不可行，进一步使诊断过程复杂化。
患者表现： 一名28岁女性在妊娠期间出现吞咽困难，产后持续存在并逐渐加重。产后评估发现右侧甲状腺结节，随后在甲状腺次全切除术后诊断为甲状腺乳头状癌。产后八个月，患者出现进行性吞咽困难、头痛和头晕。磁共振成像显示延髓扩张性病变，疑似高级别原发性脑干肿瘤。由于位于脑干，活检不可行，遂针对推测的高级别胶质瘤开始经验性放化疗。
分子发现： 使用Summit™ 2.0对脑脊液（CSF）肿瘤来源核酸进行分析，发现H3-3A K28M改变，同时伴有NF1和TP53的共发生致病性改变。结合临床和影像学发现，这些分子结果支持将该肿瘤分类为弥漫性中线胶质瘤，H3 K27改变型。
管理与结局： 完成放化疗后，开始dordaviprone治疗。在2026年1月最近记录的随访中，脑MRI显示延髓病变大小和强化减少，同时吞咽困难、头痛、肌张力障碍性运动、平衡和整体功能状态均有改善。
结论： 本病例表明，当组织诊断存在禁忌时，基于脑脊液的基因组分析可以提供具有临床意义的分子信息，并可为解剖上不可及的中枢神经系统肿瘤患者提供治疗计划依据。它还强调了在妊娠期和产后持续评估持续性神经系统症状的重要性。

英文摘要

BACKGROUND: Gliomas diagnosed during pregnancy or postpartum pose diagnostic and management challenges. Neurologic symptoms may be attributed to physiological changes of pregnancy or the postpartum state, possibly delaying evaluation. When lesions arise in high-risk locations, such as the brainstem, tissue biopsy is frequently infeasible, further complicating the diagnostic process.
PATIENT PRESENTATION: A 28-year-old woman developed dysphagia during pregnancy, which persisted and gradually worsened after delivery. Postpartum evaluation identified a right thyroid nodule, subsequently diagnosed as papillary thyroid carcinoma following hemithyroidectomy. Eight months postpartum, the patient experienced progressive dysphagia, headaches, and dizziness. Magnetic resonance imaging revealed an expansile medullary lesion concerning for a high-grade primary brainstem tumor. Due to the brainstem location, biopsy was infeasible, and empiric chemoradiation was initiated for presumed high-grade glioma.
MOLECULAR FINDINGS: Cerebrospinal fluid (CSF) tumor-derived nucleic acid analysis using Summit™ 2.0 identified an H3-3A K28M alteration, along with co-occurring pathogenic alterations in NF1 and TP53. In conjunction with the clinical and radiographic findings, these molecular results supported classification of the tumor as diffuse midline glioma, H3 K27-altered.
MANAGEMENT AND OUTCOME: Following completion of chemoradiation, dordaviprone therapy was initiated. At the most recent documented follow-up in January 2026, brain MRI demonstrated decreased size and enhancement of the medullary lesion, accompanied by improvement in dysphagia, headaches, dystonic movements, balance, and overall performance status.
CONCLUSIONS: This case demonstrates that cerebrospinal fluid-based genomic profiling can provide clinically meaningful molecular information when tissue diagnosis is contraindicated and can inform treatment planning for patients with anatomically inaccessible central nervous system tumors. It also highlights the significance of ongoing evaluation of persistent neurologic symptoms during pregnancy and the postpartum period.