Department of neurological surgery, HUiP La Fe, Valencia, Spain.
Department of Pathology, HUiP La Fe, Valencia, Spain.
Childs Nerv Syst. 2021 Mar;37(3):831-837. doi: 10.1007/s00381-020-04900-3. Epub 2020 Sep 28.
Gangliogliomas are neoplastic lesions composed by a mixed population of neoplastic glial and dysplastic neural cells. They represent around 5% of all CNS tumors in the pediatric population. These usually are well-differentiated, slow-growing tumors, meaning that complete resection could cure most of these patients. Although most lesions remain stable over time after incomplete resection, some patients develop progression of the residual lesions: the optimal approach to treat these tumors is still to be defined.
This is a retrospective study in which we obtained data from medical records of pediatric patients who had a histological diagnosis of ganglioglioma following surgical treatment at a single center between 2001 and 2020.
We included 17 pediatric subjects with gangliogliomas. The median age at diagnosis was 6.7 years, and the median follow-up duration was 60 months. The most common clinical presentation was epileptic seizures (41.1%). Hydrocephalus was present in 29.4% of cases. 52.9% of tumors involved exclusively the cerebral hemispheres, with the temporal lobe being the most affected location. Gross total tumor resection (GTR) was accomplished in 47% of all cases and in 75% of hemispheric tumors. Of patients, 33% in whom GTR could not be achieved showed progression of the residual tumor. BRAF V600E mutation was present in 44.4% of cases.
Gangliogliomas are typically grade I tumors that occasionally affect children. They classically localize in the cerebral hemisphere but may involve deep structures like the basal ganglia, brain stem, and cerebellum, which seems to be particularly frequent in the pediatric population, implying further challenge to achieve adequate oncological control with surgery as the only treatment modality. Although most cases in which GTR could not be performed remained stable over the follow-up, significant progression of the tumor remains was observed in some patients. BRAF inhibitors should be considered as a feasible treatment option in this setting.
神经节神经胶质瘤是由肿瘤性神经胶质和发育不良的神经细胞混合组成的肿瘤病变。它们占儿科人群中枢神经系统肿瘤的 5%左右。这些肿瘤通常分化良好，生长缓慢，因此完全切除可以治愈大多数患者。尽管大多数病变在不完全切除后随时间推移保持稳定，但有些患者的残留病变会进展：治疗这些肿瘤的最佳方法仍有待确定。
这是一项回顾性研究，我们从 2001 年至 2020 年在一家中心接受手术治疗的小儿患者的病历中获取了数据。
我们纳入了 17 例神经节神经胶质瘤患儿。诊断时的中位年龄为 6.7 岁，中位随访时间为 60 个月。最常见的临床表现为癫痫发作（41.1%）。脑积水的发生率为 29.4%。52.9%的肿瘤仅累及大脑半球，其中颞叶是最常受累的部位。所有病例中有 47%实现了大体全切除（GTR），而在半球肿瘤中有 75%实现了 GTR。在未能实现 GTR 的患者中，有 33%的患者肿瘤残留进展。有 44.4%的病例存在 BRAF V600E 突变。
神经节神经胶质瘤通常是 I 级肿瘤，偶尔会影响儿童。它们经典地位于大脑半球，但也可能累及深部结构，如基底节、脑干和小脑，这在儿科人群中似乎更为常见，这意味着仅通过手术作为唯一治疗方式来实现充分的肿瘤控制具有进一步的挑战。尽管大多数未能实现 GTR 的病例在随访中保持稳定，但仍有部分患者的肿瘤显著进展。在这种情况下，BRAF 抑制剂应被视为一种可行的治疗选择。
