分子分类对儿童和青少年脊髓室管膜瘤预后的影响：来自HIT-MED数据库的结果
Impact of molecular classification on prognosis in children and adolescents with spinal ependymoma: Results from the HIT-MED database.
作者信息
Engertsberger Lara, Benesch Martin, Mynarek Martin, Tonn Svenja, Obrecht-Sturm Denise, Perwein Thomas, Stickan-Verfürth Martina, Funk Angela, Timmermann Beate, Bockmayr Michael, Eckhardt Alicia, Claviez Alexander, Kortmann Rolf-Dieter, Riemenschneider Markus J, Pietsch Torsten, Bison Brigitte, Warmuth-Metz Monika, Pajtler Kristian W, Rutkowski Stefan, Schüller Ulrich
机构信息
Division of Pediatric Hemato-Oncology, Department of Pediatrics and Adolescent Medicine, Medical University of Graz, Graz, Austria.
Mildred Scheel Cancer Career Center HaTriCS4, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
出版信息
Neurooncol Adv. 2024 Oct 23;6(1):vdae179. doi: 10.1093/noajnl/vdae179. eCollection 2024 Jan-Dec.
BACKGROUND
Ependymomas of the spinal cord are rare among children and adolescents, and the individual risk of disease progression is difficult to predict. This study aims to evaluate the prognostic impact of molecular typing on pediatric spinal cord ependymomas.
METHODS
Eighty-three patients with spinal ependymomas ≤22 years registered in the HIT-MED database (German brain tumor registry for children, adolescents, and adults with medulloblastoma, ependymoma, pineoblastoma, and CNS-primitive neuroectodermal tumors) between 1992 and 2022 were included. Forty-seven tumors were analyzed by DNA methylation array profiling. In 6 cases, HOXB13 and MYCN proteins were detected as surrogate markers for specific methylation classes. Ten patients had -related schwannomatosis.
RESULTS
With a median follow-up time of 4.9 years, 5- and 10-year overall survival (OS) were 100% and 86%, while 5- and 10-year progression-free survival (PFS) were 65% and 54%. Myxopapillary ependymoma (SP-MPE, = 32, 63%) was the most common molecular type followed by spinal ependymoma (SP-EPN, = 17, 33%) and -amplified ependymoma ( = 2, 4%). One case could not be molecularly classified, and one was reclassified as anaplastic pilocytic astrocytoma. 5-year PFS did not significantly differ between SP-MPE and SP-EPN (65% vs. 78%, = .64). -amplification was associated with early relapses (<2.3 years) in both cases and death in one patient. Patients with SP-MPE subtype B ( = 9) showed a non-significant trend for better 5 years-PFS compared to subtype A ( = 18; 86% vs. 56%, = .15). The extent of resection and WHO tumor grades significantly influenced PFS in a uni- and multivariate analysis.
CONCLUSIONS
Molecular typing of pediatric spinal ependymomas aids in identifying very high-risk -amplified ependymomas. Further insights into the molecular heterogeneity of spinal ependymomas are needed for future clinical decision-making.
背景
脊髓室管膜瘤在儿童和青少年中较为罕见，且疾病进展的个体风险难以预测。本研究旨在评估分子分型对小儿脊髓室管膜瘤预后的影响。
方法
纳入1992年至2022年期间在HIT-MED数据库（德国儿童、青少年和成神经管细胞瘤、室管膜瘤、松果体母细胞瘤及中枢神经系统原始神经外胚层肿瘤患者的脑肿瘤登记处）登记的83例年龄≤22岁的脊髓室管膜瘤患者。47例肿瘤通过DNA甲基化阵列分析进行检测。6例中检测HOXB13和MYCN蛋白作为特定甲基化类别的替代标志物。10例患者患有相关的神经鞘瘤病。
结果
中位随访时间为4.9年，5年和10年总生存率（OS）分别为100%和86%，而5年和10年无进展生存率（PFS）分别为65%和54%。黏液乳头型室管膜瘤（SP-MPE，n = 32，63%）是最常见的分子类型，其次是脊髓室管膜瘤（SP-EPN，n = 17，33%）和MYCN扩增型室管膜瘤（n = 2，4%）。1例无法进行分子分类，1例重新分类为间变性毛细胞型星形细胞瘤。SP-MPE和SP-EPN的5年PFS无显著差异（65%对78%，P = 0.64）。MYCN扩增在两例中均与早期复发（<2.3年）相关，1例患者死亡。SP-MPE B亚型（n = 9）的5年PFS较A亚型（n = 18）有更好的趋势，但无统计学意义（86%对56%，P = 0.15）。在单因素和多因素分析中，切除范围和世界卫生组织肿瘤分级显著影响PFS。
结论
小儿脊髓室管膜瘤的分子分型有助于识别高危的MYCN扩增型室管膜瘤。未来临床决策需要对脊髓室管膜瘤的分子异质性有更深入的了解。
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