Zhang Xin,Jin Qianya,Yuan Xiaojun.Challenges and strategies in the diagnosis and treatment of neuroblastoma in adolescents and adults: one case report with a literature review[J].Journal of Clinical Pediatric Surgery,2023,22(07):625-629.[doi:10.3760/cma.j.cn101785-202306028-005]
青少年和成人神经母细胞瘤诊疗策略和挑战:病例报告并文献复习
- Title:
- Challenges and strategies in the diagnosis and treatment of neuroblastoma in adolescents and adults: one case report with a literature review
- Keywords:
- Neuroblastoma; Molecular Targeted Therapy; Surgical Procedures; Operative; Diagnosis; Therapy
- 摘要:
- 目的 探讨青少年和成人神经母细胞瘤（neuroblastoma，NB）的临床特点、诊治经验及预后。方法 本研究为回顾性研究，以上海交通大学医学院附属新华医院接受治疗及随访的1例最初误诊为嗜铬细胞瘤（pheochromocytoma，PHEO）的24岁NB患者为研究对象，对其诊断过程、接受抗双唾液酸神经节苷脂（disialoganglioside，GD2）单克隆抗体免疫治疗和间变性淋巴瘤激酶（anaplastic lymphoma kinase，ALK）抑制剂劳拉替尼靶向治疗的临床特点进行分析。以关键词"青少年和成人神经母细胞瘤"检索万方数据库及中国知网相关文献；以"adolescent and neuroblastoma"或"adult and neuroblastoma"为检索词，检索PubMed数据库相关文献。检索截止日期为2021年12月。排除14岁以下和原发颅内NB病例后进行文献复习，总结该群体NB的临床特征、治疗方法以及治疗结局情况。结果 患者男，24岁，因体检发现腹部肿块入院，肿瘤原发部位为右侧肾上腺，有淋巴结和骨转移，手术切除腹部肿瘤，经多次病理复核及影像学检查和生物学特征综合分析，确诊为NB。二代测序结果显示存在ALK R1275Q突变。该患者经手术、化疗、放疗及ALK抑制剂联合抗GD2靶向治疗，病情得以控制。检索获得69篇符合要求的文献，共报道142例青少年和成人NB患者，其中男62例，女80例；平均诊断年龄26.5岁。诊断时82例（82/142，57.8%）肿瘤原发部位在腹部；67例（47.2%）发生远处转移，仅局部病变的患者5年生存率为64.4%，而发生转移者5年生存率为15.7%；139例接受治疗，其中仅3例进行了靶向治疗。中位随访时间21.5个月，总体生存率为41.6%。结论 青少年和成人NB罕见，常原发于腹部，较儿童NB异质性更高，预后较儿童NB差，远处转移是青少年和成人NB患者预后的影响因素；针对该人群靶向治疗方案相对缺乏，使用三代ALK抑制剂与抗GD2免疫治疗的靶向治疗对该人群NB可能有效。
- Abstract:
- Objective To explore the clinical characteristics, diagnosis, treatment and prognosis of neuroblastoma (NB) in adolescents and adults.Methods Retrospective review was conducted for a 24-year-old NB patient initially misdiagnosed as chromaffin cell tumor treated and followed-up at Xinhua Hospital.Diagnostic process, anti-disialoganglioside (GD2) monoclonal antibody immunotherapy and targeted treatment of anaplastic lymphoma kinase (ALK) inhibitor lorlatinib were examined.We conducted a literature review was performed by searching the databases of Wanfang and China National Knowledge Infrastructure (CNKI) using such keywords of "adolescent and adult neuroblastoma." Additionally, PubMed was searched using the keywords of "adolescent and neuroblastoma" or "adult and neuroblastoma." The search was conducted until December 2021.The authors excluded cases of NB in patients aged under 14 years and cases of primary intracranial NB with limited information.Results This 24-year-old boy was admitted due to an abdominal mass detected during a physical examination.Primary tumor in right adrenal gland with lymph node and bone metastasis was surgically resected.After multiple pathological reviews, imaging examinations and comprehensive analysis of biological characteristics, a definite diagnosis of NB was confirmed.Genetic testing revealed the presence of ALK R1275Q mutation.Surgery, chemoradiotherapy and co-treatment of ALK inhibitor and GD2-targeted therapy resulted in disease control.A total of 69 relevant articles involving 142 cases of adolescent/adult NB were retrieved.There were 62 boys and 80 girls with an average diagnostic age of 26.5 years.At the time of diagnosis, primary tumor was located in abdomen in 82 cases (57.8%).Sixty-seven cases (47.2%) had distant metastasis.The 5-year survival rate for children with localized lesions was 64.4% versus 15.7% for those with metastasis.Among 139 treated children, only 3 cases received targeted therapy.The median follow-up period was 21.5 month and the overall survival rate 41.6%.Conclusion Neuroblastoma is rare in adolescents and adults and originates predominantly in abdomen.It exhibits higher diagnostic heterogeneity as compared to pediatric NB and has a worse prognosis.Distant metastasis is an independent factor affecting the prognosis of adolescent/adult NB patients.Third-generation ALK inhibitors and GD2-targeted immunotherapy may be effective in this population.
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备注/Memo
收稿日期:2023-06-15。
基金项目:国家自然科学基金（82002918）
通讯作者:袁晓军,Email:yuanxiaojun@xinhuamed.com.cn