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中国循证儿科杂志

中国循证儿科杂志 ›› 2022, Vol. 17 ›› Issue (3): 215-219.DOI: 10.3969/j.issn.1673-5501.2022.03.008

• 论著 • 上一篇    下一篇

伴有MYCN基因扩增的神经母细胞瘤133例病例系列报告

赵倩1,岳志霞1,苏雁1,金眉1,张大伟1,赵文1,王希思1,段超1,范洪君1,简冰林1,于彤2,伏利兵3,马晓莉11   

  1. 国家儿童医学中心（北京），首都医科大学附属北京儿童医院 北京100045；1 肿瘤内科北京市儿童血液肿瘤重点实验室，儿科重大疾病研究教育部重点实验室，2 影像中心，3 病理科


  • 收稿日期:2021-09-02 修回日期:2022-06-20 出版日期:2022-06-25 发布日期:2022-06-25
  • 通讯作者: 马晓莉

133 neuroblastoma children with MYCN amplification：A case series report

ZHAO Qian1, YUE Zhixia1, SU Yan1, JIN Mei1, ZHANG Dawei1, ZHAO Wen1, WANG Xisi1, DUAN Chao1, FAN Hongjun1, JIAN Binglin1, YU Tong2, FU Libing3, MA Xiaoli1    

  1.  Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing 100045, China; 1 Medical Oncology Department, Pediatric Oncology Center, Beijing Key Laboratory of Pediatric Hematology Oncology, Key Laboratory of Major Diseases in Children, Ministry of Education, 2 Image Center, 3 Pathology Department
  • Received:2021-09-02 Revised:2022-06-20 Online:2022-06-25 Published:2022-06-25
  • Contact: MA Xiaoli, email: mxl1123@vip.sina.com

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摘要： 背景：伴有MYCN基因扩增的神经母细胞瘤（NB）患儿的长期生存率不容乐观，目前国内相关大宗病例报道不多。 目的：总结伴有MYCN基因扩增的NB患儿的临床特征、治疗效果及预后相关因素。 设计：病例系列报告。 方法：纳入2007年2月1日至2020年1月30日首都医科大学附属北京儿童医院血液肿瘤中心确诊NB且经荧光原位杂交法确定伴有MYCN扩增的患儿，分析患儿瘤灶部位、大小、转移部位、肿瘤标记物、病理亚型、治疗情况及影响预后的相关因素。 主要结局指标：3年生存影响因素。 结果：纳入133例MYCN扩增的NB患儿，占同期收治总NB患儿的12.0%。男82例，女51例，中位发病年龄（35.7±9.8）个月；原发瘤灶位于腹膜后及肾上腺区129例（97.0%），位于后纵隔区域4例（3.0%）；骨髓转移81例（60.9%），骨骼转移80例（60.2%），中枢转移24例（18.1%）；99例（74.4%）血清LDH≥1 500 U·L-1，126例（94.7%）神经元特异性烯醇化酶≥100 ng·mL-1；原发瘤灶最大直径≥10 cm者89例（66.9%）。3年OS和EFS分别为（19.7±3.5）%和（19.0±3.6）%。78例进展复发，在诱导、巩固、维持及停药后进展复发分别为8、20、46和4例，进展复发的部位以原发瘤灶、骨髓、中枢神经系统及骨骼最常见，中位首次进展时间为11.3月。伴有骨髓、骨转移、合并1p36缺失、年龄＜18月及未行自体外周血造血干细胞移植患儿预后不良。 结论：伴有MYCN扩增的NB患儿原发瘤灶以腹膜后肾上腺区为主，早期远处转移率高，50%以上患儿在维持治疗期间肿瘤进展，3年OS仅为19.7%。伴有MYCN扩增的NB患儿迫切需要靶向治疗等新的治疗手段，以提高疗效，改善预后。

关键词: 神经母细胞瘤, MYCN扩增, 临床特征, 预后

Abstract: Background：The longterm survival of children with neuroblastoma (NB) associated with MYCN amplification is not promising, and few studies have been previously reported in China. Objective：To summarize the related factors of clinical characteristics, therapeutic effect and prognosis in NB children with MYCN amplification and to further improve the recognization of this group in NB. Design：Case series report. Methods：The clinical information of NB with MYCN amplification, diagnosed and treated from Feb 2007 to Jan 2020, were analyzed retrospectively, and the tumor location, size, metastasis, treatment, and risk factors affecting the prognosis were analyzed. Main outcome measures：Factors affecting the 3year survival of NB with MYCN amplification. Results：A total of 133 NB patients with MYCNAmp were included in this study, accounting for 12.02% of total NB patients in the same period in our center. The median age of onset was 35.7±9.8 months. There were 129 cases (97%) located in abdomen region and 4 cases (3%) in posterior mediastinal region. There were 81 cases (60.9%) with bone marrow metastasis, 80 cases (60.2%) with bone metastasis and 24 cases (18.1%) with central nerves system metastasis. Serum LDH ≥1 500 U·L-1was shown in 99 cases (74.4%). NES ≥100 ng·mL-1was found in 126 cases (94.7%). The largest tumor diameter (>10 cm) was in 89 cases (66.9%). The 3year OS and EFS were 19.7% and 19.0%. There were 78 cases of progressive recurrence, 8, 20, 46 and 4 cases of progressive recurrence happened at induction, consolidation, maintenance and withdrawal, respectively. Primary tumor, bone marrow, central nervous system and bone were the most common sites of progressive recurrence. The median time of first progression was 11.3 months. Bone marrow and bone metastasis, deletion of 1p36 were risk factors. Conclusion：A single center with large sample of MYCNAmp NB showed that the primary tumor was predominantly located in the retroperitoneal adrenal region, with a high rate of early distant metastasis, and more than 50% of the children developed tumor progression during maintenance therapy with 3year OS of 19.7%. These children urgently need targeted therapy and other new treatment to further improve the efficacy and the prognosis.

Key words: Neuroblastoma, MYCN amplification, Clinical characteristic, Prognosis