Johnson Kimberly J, Lee Jong Min, Ahsan Kazi, Padda Hannah, Feng Qianxi, Partap Sonia, Fowler Susan A, Druley Todd E
Brown School, Washington University in St. Louis, St. Louis, Missouri, United States of America.
Department of Pediatrics, Washington University School of Medicine, Washington University in St. Louis, St. Louis, Missouri, United States of America.
PLoS One. 2017 Jul 27;12(7):e0181246. doi: 10.1371/journal.pone.0181246. eCollection 2017.
Many epidemiological studies have examined associations between birth defects (BDs) and pediatric malignancy over the past several decades. Our objective was to conduct a systematic literature review of studies reporting on this association.
We used librarian-designed searches of the PubMed Medline and Embase databases to identify primary research articles on pediatric neoplasms and BDs. English language articles from PubMed and Embase up to 10/12/2015, and in PubMed up to 5/12/2017 following an updated search, were eligible for inclusion if they reported primary epidemiological research results on associations between BDs and pediatric malignancies. Two reviewers coded each article based on the title and abstract to identify eligible articles that were abstracted using a structured form. Additional articles were identified through reference lists and other sources. Results were synthesized for pediatric cancers overall and for nine major pediatric cancer subtypes.
A total of 14,778 article citations were identified, of which 80 met inclusion criteria. Pediatric cancer risk was increased in most studies in association with BDs overall with some notable specific findings, including increased risks for CNS tumors in association with CNS abnormalities and positive associations between rib anomalies and several pediatric cancer types.
Some children born with BDs may be at increased risk for specific pediatric malignancy types. This work provides a foundation for future investigations that are needed to clarify specific BD types predisposing toward malignancy and possible underlying causes of both BDs and malignancy.
在过去几十年中，许多流行病学研究探讨了出生缺陷（BDs）与儿童恶性肿瘤之间的关联。我们的目的是对报告这一关联的研究进行系统的文献综述。
我们利用图书馆员设计的搜索策略，在PubMed Medline和Embase数据库中检索关于儿童肿瘤和出生缺陷的原始研究文章。来自PubMed和Embase截至2015年12月10日的英文文章，以及在更新搜索后截至2017年12月5日的PubMed中的文章，如果报告了关于出生缺陷与儿童恶性肿瘤之间关联的原始流行病学研究结果，则有资格纳入。两名评审员根据标题和摘要对每篇文章进行编码，以识别使用结构化表格进行摘要的合格文章。通过参考文献列表和其他来源识别其他文章。对总体儿童癌症以及九种主要儿童癌症亚型的结果进行了综合分析。
共识别出14778条文章引用，其中80条符合纳入标准。在大多数研究中，总体上出生缺陷与儿童癌症风险增加相关，有一些显著的具体发现，包括中枢神经系统异常与中枢神经系统肿瘤风险增加，以及肋骨异常与几种儿童癌症类型之间存在正相关。
一些患有出生缺陷的儿童可能患特定类型儿童恶性肿瘤的风险增加。这项工作为未来的研究奠定了基础，这些研究需要阐明易患恶性肿瘤的特定出生缺陷类型以及出生缺陷和恶性肿瘤的可能潜在原因。
