Department of Pathology and Immunology, Washington University School of Medicine, St Louis, MO 63110, USA.
Mallinckrodt Institute of Radiology, Department of Neuroradiology, Washington University School of Medicine, St Louis, MO 63110, USA.
Hum Pathol. 2017 Dec;70:105-112. doi: 10.1016/j.humpath.2017.06.004. Epub 2017 Jun 23.
Diffuse leptomeningeal glioneuronal tumor, a recent addition to the World Health Organization classification system, typically presents in the pediatric population with signs and symptoms related to elevated intracranial pressure and imaging characteristics that may mimic infectious etiologies. The tumor is usually low grade and tends to harbor BRAF rearrangement/duplication in up to 75% of cases, BRAF V600E mutation in a smaller subset of cases, and loss of chromosomal arm 1p in approximately 50%-60% of cases, with ~20% of those showing loss of both 1p and 19q (codeletion). We report here 2 contrasting cases of diffuse leptomeningeal glioneuronal tumors, one with typical low-grade features and an indolent, although not benign, course, in which the disease is currently successfully managed by chemotherapy, and a second case with unusually high-grade features on initial presentation, including frank anaplasia and elevated mitotic index, in which the disease showed an initial response to chemoradiation but ultimately was fatal.
弥漫性软脑膜神经胶质神经元肿瘤是世界卫生组织分类系统中的一个新增分类，主要发生在儿童人群，其表现为与颅内压升高相关的体征和症状，影像学特征可能类似于感染性病因。该肿瘤通常为低级别，约 75%的病例存在 BRAF 重排/复制，较小部分病例存在 BRAF V600E 突变，约 50%-60%的病例存在 1 号染色体臂缺失，约 20%的病例同时存在 1p 和 19q 的缺失（共缺失）。我们在此报告 2 例具有对比性的弥漫性软脑膜神经胶质神经元肿瘤病例，其中 1 例具有典型的低级别特征和惰性但非良性的病程，目前通过化疗成功治疗，另 1 例在初始表现时具有异常高的级别特征，包括明显的间变和升高的有丝分裂指数，该病例在放化疗初始时表现出反应，但最终导致死亡。
