Background

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.

Methods

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.

Results

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.

Conclusion

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.

中文翻译：

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小儿神经节神经胶质瘤

背景

神经节神经胶质瘤是由肿瘤性神经胶质细胞和发育不良的神经细胞混合组成的肿瘤性病变。它们占小儿所有CNS肿瘤的5％左右。这些通常是分化良好，生长缓慢的肿瘤，这意味着完全切除可以治愈大多数这些患者。尽管大多数病变在不完全切除后会随着时间的推移而保持稳定，但是一些患者会出现残留病变的发展：治疗这些肿瘤的最佳方法仍有待确定。

方法

这是一项回顾性研究，我们从2001年至2020年在单个中心接受手术治疗后经组织学诊断为神经节胶质瘤的儿科患者的病历中获得了数据。

结果

我们纳入了17名神经节神经胶质瘤的儿科受试者。诊断时的中位年龄为6.7岁，中位随访时间为60个月。最常见的临床表现是癫痫发作（41.1％）。脑积水占29.4％。52.9％的肿瘤仅累及脑半球，颞叶是受影响最大的部位。在所有病例中有47％在半球肿瘤中完成了总肿瘤切除术（GTR）。在33％无法达到GTR的患者中，残留肿瘤进展。在44.4％的病例中存在BRAF V600E突变。

结论

神经胶质瘤通常是I级肿瘤，偶尔会影响儿童。它们通常位于大脑半球，但可能涉及深层结构，如基底神经节，脑干和小脑，这在儿科人群中似乎特别常见，这意味着进一步挑战以手术作为唯一治疗手段来实现充分的肿瘤控制。尽管大多数无法进行GTR的病例在随访期间保持稳定，但在某些患者中观察到了明显的肿瘤残留进展。在这种情况下，应将BRAF抑制剂视为可行的治疗选择。