儿童颅内伴多层菊形团的胚胎性肿瘤预后相关因素分析：一项单中心回顾性研究

doi:10.12372/jcp.2025.24e1162

摘要/Abstract

摘要：

目的回顾性研究影响儿童颅内伴多层菊形团的胚胎性肿瘤(ETMR)预后的主要因素，为改善患儿的预后提供有效的建议。方法收集2013年1月至 2023年12月共11年在手术后确诊的ETMR患儿29例。数据来源于住院病历及电话随访内容。最后接受随访的17例患儿被纳入分析。回顾性分析17例ETMR患儿的临床资料，总结患儿的性别、年龄、肿瘤位置、临床表现、手术切除程度、术后放化疗、术后转移和复发的情况及预后。结果其中11例患儿诊断为ETMR，2例诊断为具有丰富神经纤维和真菊形团的胚胎性肿瘤(ETANTR)，4例病理为髓上皮瘤（MEPL），确诊时的中位年龄为2.5岁（11个月20天到8.6岁）。研究终点为患儿死亡，中位生存时间为8个月（0至130.5个月）。患儿的1年无进展生存（PFS）率为18%，1年总生存（OS）率为41%，3年PFS率为18%，3年OS率为24%。死亡13例(76%)，死亡原因为肿瘤引起的相关并发症、肿瘤进展或复发。生存分析结果中，性别、术后行放疗、术后行化疗、术后行联合放化疗对于总体生存时间的影响有统计学差异（P<0.05）。结论 ETMR为高度侵袭性，病死率高，其治疗通常从最大限度的手术切除开始，手术全切、术后行放疗及化疗与较好的预后相关。

关键词: 颅内伴多层菊形团的胚胎性肿瘤, 手术, 放疗, 化疗, 儿童

Abstract:

Objective The purpose of this study was to retrospectively analyze the main factors affecting the prognosis of pediatric intracranial embryonal tumor with multilayered rosettes (ETMR) and to provide effective suggestions for improving the prognosis of children with this condition. Methods From January 2013 to December 2023, clinical data were collected from 29 patients with ETMR who underwent surgery and were diagnosed postoperatively. Data were obtained from medical records and telephone follow-ups. A total of 17 patients who completed follow-up were included in the analysis. The clinical data of these 17 children with ETMR were retrospectively reviewed, summarizing their gender, age, tumor location, clinical manifestations, extent of surgical resection, postoperative radiotherapy and chemotherapy, recurrence and metastasis, as well as prognosis. Results Among the 17 patients, 11 were diagnosed with ETMR, 2 with embryonal tumor with abundant neuropil and true rosettes (ETANTR), and 4 with medulloepithelioma (MEPL). The median age at diagnosis was 2.5 years (range: 11 months and 20 days to 8.6 years). The study endpoint was death, with a median survival time of 8 months (range: 0 to 130.5 months). The 1-year progression-free survival (PFS) and overall survival (OS) rates were 18% and 41%, respectively, while the 3-year PFS and OS rates were 18% and 24%, respectively. Thirteen patients (76%) died due to tumor-related complications, progression, or recurrence. Survival analysis showed that gender, postoperative radiotherapy, chemotherapy, and combined chemoradiotherapy had statistically significant effects on overall survival (P<0.05). Conclusion ETMR is a highly invasive tumor with a high mortality rate. Treatment typically begins with maximum surgical resection. Gross total resection, postoperative radiotherapy, chemotherapy, or combined chemoradiotherapy are associated with better prognosis.

Key words: intracranial embryonal tumor with multilayered rosettes, surgery, radiotherapy, chemotherapy, child

郁佳华, 王成, 余颖, 王雅菲, 张晨冉. 儿童颅内伴多层菊形团的胚胎性肿瘤预后相关因素分析：一项单中心回顾性研究[J]. 临床儿科杂志, 2025, 43(4): 293-300.

YU Jiahua, WANG Cheng, YU Ying, WANG Yafei, ZHANG Chenran. Analysis of factors associated with the prognosis of embryonal tumor with multilayered rosettes: a single-center retrospective study[J]. Journal of Clinical Pediatrics, 2025, 43(4): 293-300.

图/表 3

图1

图2

表1

参考文献 21

[1]	Alshoabi SA, Abdu AM, Alkhalidi HM. Embryonal tumor with multilayered rosettes: a report of a rare case[J]. BJR Case Rep, 2022: 20210216.
[2]	Meliti A, Gasim W, Al-Maghrabi H, et al. Embryonal tumor with multilayered rosettes; rare pediatric CNS tumor. A case report and review of literature[J]. Int J Pediatr Adolesc Med, 2022: 174-178.
[3]	Ulzen-Appiah K, Akakpo KP. Embryonal tumor with multilayered rosettes in a teenager[J]. Autops Case Rep, 2022: e2021373.
[4]	Gessi M, Giangaspero F, Lauriola L, et al. Embryonal tumors with abundant neuropil and true rosettes: a distinctive cns primitive neuroectodermal tumor[J]. Am J Surg Pathol, 2009: 211-217.
[5]	Juhnke BO, Gessi M, Gerber NU, et al. Treatment of embryonal tumors with multilayered rosettes with carboplatin/etoposide induction and high-dose chemotherapy within the prospective P-HIT trial[J]. Neuro Oncol, 2022, 24(1): 127-137.
[6]	Eberhart CG, Brat DJ, Cohen KJ, et al. Pediatric neuroblastic brain tumors containing abundant neuropil and true rosettes[J]. Pediatr Dev Pathol, 2000: 346-352.
[7]	Pickles JC, Hawkins C, Pietsch T, et al. CNS embryonal tumours: WHO 2016 and beyond[J]. Neuropathol Appl Neurobiol, 2018: 151-162.
[8]	陈灵旭, 王晓晨, 王思慧, 等. 多层菊形样胚胎性肿瘤影像学表现[J]. 中国医学影像技术, 2024, 40(2): 193-197.
	Chen LX, Wang XC, Wang SH, et al. Imaging findings of embryonal tumor with multilayered rosettes[J]. Zhongguo Yixue Yingxiang Jishu, 2024, 40(2):193-197..
[9]	Lambo S, von Hoff K, Korshunov A, et al. ETMR: a tumor entity in its infancy[J]. Acta Neuropathol, 2020: 249-266.
[10]	Jaramillo S, Grosshans DR, Philip N, et al. Radiation for ETMR: Literature review and case series of patients treated with proton therapy[J]. Clin Transl Radiat Oncol, 2019: 31-37.
[11]	Li Z, Wu Z, Dong Y, et al. Clinical Management of embryonal tumor with multilayered rosettes: The CCMC Experience[J]. Children (Basel), 2022, 9(10):1560.
[12]	Govindan A, Vp M, Alapatt JP. Embryonal tumor with multilayered rosettes in a 3-year-old girl: case report[J]. Turk Neurosurg, 2019: 451-454.
[13]	Zagzag D, Miller DC, Knopp E, et al. Primitive neuroectodermal tumors of the brainstem: investigation of seven cases[J]. Pediatrics, 2000: 1045-1053.
[14]	Dhall G, Grodman H, Ji L, et al. Outcome of children less than three years old at diagnosis with non-metastatic medulloblastoma treated with chemotherapy on the "Head Start" I and II protocols[J]. Pediatr Blood Cancer, 2008: 1169-1175.
[15]	Antonelli M, Korshunov A, Mastronuzzi A, et al. Long-term survival in a case of ETANTR with histological features of neuronal maturation after therapy[J]. Virchows Arch, 2015: 603-607.
[16]	Uro-Coste E, Masliah-Planchon J, Siegfried A, et al. ETMR-like infantile cerebellar embryonal tumors in the extended morphologic spectrum of DICER1-related tumors[J]. Acta Neuropathol, 2019: 175-177.
[17]	Horwitz M, Dufour C, Leblond P, et al. Embryonal tumors with multilayered rosettes in children: the SFCE experience[J]. Childs Nerv Syst, 2016: 299-305.
[18]	Lambo S, Gröbner SN, Rausch T, et al. The molecular landscape of ETMR at diagnosis and relapse[J]. Nature, 2019: 274-280.
[19]	Q Li, Chen N, Ju Y. Infantile medulloepithelioma in the lateral ventricle and cerebellopontine angle: Two case reports[J]. Medicine (Baltimore), 2018: e10751.
[20]	Raghuram N, Khan S, Mumal I, et al. Embryonal tumors with multi-layered rosettes: a disease of dysregulated miRNAs[J]. J Neurooncol, 2020: 63-73.
[21]	Mayr L, Gojo J, Peyrl A, et al. Potential importance of early focal radiotherapy following gross total resection for long-term survival in children with embryonal tumors with multilayered rosettes[J]. Front Oncol, 2020: 584681.

因素	分类	例数[n(%)]	中位生存时间[M(P₂₅~P₇₅)]/月	P
性别	男女	12（70.6） 5（29.4）	12(5.210~18.790) 1(0.000~2.074)	0.002
年龄	>3岁 ≤3岁	4（23.5） 13（76.5）	4(1.060~6.940) 8.5(2.628~14.372)	0.767
肿瘤部位	幕上幕下	8（47.1） 9（52.9）	8(0.000~18.394) 7(0.000~15.765)	0.716
术前是否合并脑积水	合并脑积水不合并脑积水	6（35.3） 11（64.7）	5(0.000~18.203) 8(3.145~12.855)	0.729
手术切除程度	全切术部分切除术活检术	10（58.8） 3（17.7） 4（23.5）	12(5.802~18.198) 4(0.000~8.801) 1(0.000~2.960)	0.064
术后化疗	是否	10（58.8） 7（41.2）	12.5(3.203~21.797) 2(0.829~3.171)	<0.001
术后放疗	是否	9（52.9） 8（47.1）	18(1.930~34.070) 2(0.658~3.342)	0.001
术后联合放化疗	是否	8（47.1） 9（52.9）	18(2.250~22.750) 2(0.000~2.200)	<0.001
复发	是否	6（35.3） 11（64.7）	12.5(4.098~20.902) 4(0.763~7.237)	0.519
转移	是否	3（17.6） 14（82.4）	18(9.198~26.802) 5(0.000~10.500)	0.290