目的:神经节胶质瘤是一种以儿科为主的低度中枢神经系统肿瘤,占所有儿童脑肿瘤的10%。颈髓质交界处(GGCMJ)和脑干(GGBS)的神经节胶质瘤提出了许多管理挑战,包括手术发病率的重大风险。目前,对包括BRAFV600E状态在内的预后因素的理解不完全。这里,作者报告了单一机构GGCMJ和GGBS的经验,并回顾了相关文献。
方法:回顾性查询了一个大型三级医疗学术转诊中心前瞻性维护的神经外科数据库,查询了1995年至2015年期间经病理证实的GGCMJ病例;通过诊断代码和关键词定义了适当的病例。进行次要补充图表审查以确认或捕获相关数据。主要研究结果为放射学复发或进展和/或临床或功能下降的证据所定义的治疗失败。还对文献进行了回顾。
结果:确定了5名经神经外科治疗的GGBS患者,4例肿瘤分类为GGCMJ。5例患者年龄均小于18岁(中位数为15岁,范围4-16岁)和3(60%)为女性。一名患者接受了全切除,2例接受了积极的次全切除术(STR),2只行立体定向活检。所有接受STR或活检的患者都需要重复切除以控制肿瘤或进展。2例进展性疾病采用放疗治疗,化疗2例,单纯放化疗1例。3例患者(60%)BRAFV600E免疫染色呈阳性。所有5例患者至少有一次严重并发症,包括伤口感染,脚下垂,偏瘫,四肢瘫痪,颅神经病,C2-3半脱位,脊髓空洞症,脑积水,抽吸,和昏迷。总死亡率为20%,在11年的随访中观察到1例死亡。
结论:GGBS和GGCMJ很少见,良性后颅窝肿瘤,具有显著的围手术期发病率。当代管理策略是异质的,包括切除的组合,放射治疗,和化疗。在GGBS和GGCMJ中经常观察到BRAFV600E突变,并且似乎对靶向生物制剂具有预后和治疗意义。
Ganglioglioma is a low-grade central nervous system neoplasm with a pediatric predominance, accounting for 10% of all brain tumors in children. Gangliogliomas of the cervicomedullary junction (GGCMJs) and brainstem (GGBSs) present a host of management challenges, including a significant risk of surgical morbidity. At present, understanding of the prognostic factors-including BRAF V600E status-is incomplete. Here, the authors report a single-institution GGCMJ and GGBS experience and review the pertinent literature.
A prospectively maintained neurosurgical database at a large tertiary care academic referral center was retrospectively queried for cases of GGCMJ pathologically confirmed in the period from 1995 to 2015; appropriate cases were defined by diagnosis codes and keywords. Secondary supplemental chart review was conducted to confirm or capture relevant data. The primary
study outcome was treatment failure as defined by evidence of radiographic recurrence or progression and/or clinical or functional decline. A review of the literature was conducted as well.
Five neurosurgically managed GGBS patients were identified, and the neoplasms in 4 were classified as GGCMJ. All 5 patients were younger than 18 years old (median 15 years, range 4-16 years) and 3 (60%) were female. One patient underwent gross-total resection, 2 underwent aggressive subtotal resection (STR), and 2 underwent stereotactic biopsy only. All patients who had undergone STR or biopsy required repeat resection for tumor control or progression. Progressive disease was treated with radiotherapy in 2 patients, chemotherapy in 2, and chemoradiotherapy alone in 1. Immunostaining for BRAF V600E was positive in 3 patients (60%). All 5 patients experienced at least one major complication, including wound infection, foot drop, hemiparesis, quadriparesis, cranial neuropathy, C2-3 subluxation, syringomyelia, hydrocephalus, aspiration, and coma. Overall mortality was 20%, with 1 death observed over 11 years of follow-up.
GGBS and GGCMJ are rare, benign posterior fossa tumors that carry significant perioperative morbidity. Contemporary management strategies are heterogeneous and include combinations of resection, radiotherapy, and chemotherapy. The BRAF V600E mutation is frequently observed in GGBS and GGCMJ and appears to have both prognostic and therapeutic significance with targeted biological agents.