基于分子分型的个体化治疗在儿童髓母细胞瘤治疗中的应用

doi:10.3969/j.issn.1672-6731.2020.04.008

摘要/Abstract

摘要：

目的探讨基于肿瘤分子分型的个体化治疗在儿童髓母细胞瘤治疗中的临床价值。方法 2017年12月至2019年12月共23例髓母细胞瘤患儿均予手术切除并经术后病理检查证实诊断，并行肿瘤基因检测，根据肿瘤分子分型进行术后5年生存率风险分层并予以个体化放化疗，记录肿瘤切除率、术后并发症、对放化疗的反应以及肿瘤复发情况。结果 23例髓母细胞瘤患儿分子分型为WNT型3例、SHH型7例、Group3型5例和Group4型8例，基于上述分子分型，风险分层为低危组（5例）、标危组（8例）、高危组（5例）和极高危组（5例）。肿瘤全切除20例，次全切除3例。术后3例脑积水加重，2例出现小脑缄默，3例出现呛咳、面瘫等神经系统症状，经对症治疗后缓解。根据风险分层术后辅以相应放化疗方案。术后平均随访（15.15±3.45）个月，低危组和标危组放化疗耐受程度较强，未见肿瘤复发；高危组和极高危组放化疗后出现明显骨髓抑制和消化道症状，经对症治疗后缓解，高危组有2例、极高危组有3例肿瘤复发。结论根据髓母细胞瘤的分子分型进行风险分层更加精准，基于该分子分型的个体化治疗方案可以避免临床过度治疗或治疗不足，值得临床推广。

关键词: 髓母细胞瘤, 儿童, 基因分型技术, 精准医学

Abstract:

Objective To explore the clinical efficacy of individualized therapy based on molecular classification in the treatment of medulloblastoma in children. Methods The clinical data of 23 children with medulloblastoma confirmed by pathology after surgery from December 2017 to December 2019 were analyzed retrospectively. The 5-year survival rate risk was stratified according to tumor molecular classification, and individualized chemoradiotherapy were given. Chemoradiotherapy response, postoperative complications and tumor recurrence were recorded. Results There were 23 cases of medulloblastoma. The tumor molecular genes were classified as WNT type 3 cases, SHH type 7 cases, Group3 type 5 cases and Group4 type 8 cases. The patients were divided into 4 groups according to the results of molecular classification as risk factors:low risk group (n=5), standard risk group (n=8), high risk group (n=5) and very high risk group (n=5). Total tumor resection was performed in 20 cases, subtotal resection in 3 cases. Three cases with hydrocephalus aggravated after surgery, 2 cases with cerebellar silence, 3 cases with cough paralysis and other neurological symptoms, which were relieved after symptomatic treatment. Individualized treatment (radiotherapy + chemotherapy) was carried out according to the risk stratification. The mean postoperative follow-up period was (15.15±3.45) months. The tolerance of radiotherapy and chemotherapy in the low risk group and the standard risk group was strong, and no tumor recurrence was observed. After radiotherapy and chemotherapy, the high risk group and the very high risk group showed obvious bone marrow suppression and gastrointestinal symptoms, which were relieved after symptomatic treatment, and there were 2 cases in the high risk group and 3 cases in the very high risk group occuring tumor recurrence. Conclusions The risk stratification based on molecular classification is more accurate, and the individualized therapy could avoid excessive or insufficient clinical treatment, which is worthy of clinical promotion.

Key words: Medulloblastoma, Child, Genotyping techniques, Precision medicine

施伟, 薛萍, 余建忠, 赵瑞, 张毅, 李昊. 基于分子分型的个体化治疗在儿童髓母细胞瘤治疗中的应用[J]. 中国现代神经疾病杂志, 2020, 20(4): 294-300.

SHI Wei, XUE Ping, YU Jian-zhong, ZHAO Rui, ZHANG Yi, LI Hao. Application of individualized therapy based on molecular classification in the treatment of medulloblastoma in children[J]. Chinese Journal of Contemporary Neurology and Neurosurgery, 2020, 20(4): 294-300.

https://journal11.magtechjournal.com/cjcnn/CN/Y2020/V20/I4/294

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2 基于分子分型的个体化治疗在儿童髓母细胞瘤治疗中的应用

Application of individualized therapy based on molecular classification in the treatment of medulloblastoma in children

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