Background: The 5-year prognosis of non-high-risk neuroblastomas is generally good (>90%). However, a proportion of patients show progression and succumb to their disease. We aimed to identify molecular aberrations (not incorporated in the current risk stratification) associated with overall survival (OS) and/or event-free survival (EFS) in patients diagnosed with non-high-risk neuroblastoma. Methods: We conducted a systematic search in PubMed, Embase, Cochrane and Google Scholar. Two reviewers independently and blindly screened titles/abstracts, references of protocols/reviews and full texts. Risk of bias was assessed using a customized Quality in Prognostic Studies tool. Applicability was assessed using a tool designed by the researchers. GRADE criteria were used to determine quality of evidence. Results: Sixteen studies (4718 patients) were included. A segmental chromosomal aberration (SCA) profile was associated with lower survival. 1p loss of heterozygosity (LOH) and 17q gain were associated with lower OS and EFS. 1p deletion and 2p gain were associated with lower OS, but this was not the same for EFS. 3p deletion was not associated with worse outcome. Quality of evidence was downgraded because of imprecision and publication bias and upgraded because of moderate/large effect, resulting in a moderate quality of evidence. Conclusion: The association of 1p LOH, 1p deletion, 2p gain and 17q gain with OS and EFS suggests that these SCAs may be added to the risk stratification to identify non-high-risk neuroblastomas with worse prognosis.
背景：非高危神经母细胞瘤的5年预后通常良好（>90%）。然而，部分患者会出现疾病进展并最终死亡。本研究旨在识别与确诊为非高危神经母细胞瘤患者总生存期（OS）和/或无事件生存期（EFS）相关的分子异常（当前风险分层未纳入的指标）。方法：我们在PubMed、Embase、Cochrane和Google Scholar数据库中进行了系统性检索。由两名评审员独立、盲法筛选标题/摘要、方案/综述的参考文献及全文。采用定制的预后研究质量工具评估偏倚风险，使用研究者设计的工具评估适用性，并依据GRADE标准确定证据质量。结果：共纳入16项研究（涉及4718例患者）。片段性染色体畸变（SCA）谱与较低生存率相关。1p杂合性缺失（LOH）和17q增益与较低的OS和EFS相关。1p缺失和2p增益与较低的OS相关，但与EFS的相关性不一致。3p缺失与不良预后无关。证据质量因不精确性和发表偏倚被降级，又因中/大效应量被升级，最终证据质量为中等。结论：1p LOH、1p缺失、2p增益和17q增益与OS及EFS的关联性表明，这些SCA指标可纳入风险分层体系，以识别预后较差的非高危神经母细胞瘤。
肿瘤(癌症)患者之家