Liu Jiabin, Zhang Mengzhen, Ouyang Yu, Chang Jiaming, Zhang Wenli, Zhou Chunlei, He Jing, Zhang Xinxin
Department of Pediatric Surgery, Liuzhou Key Laboratory of Birth Defect Prevention and Control, Guangzhou Women and Children's Medical Center Liuzhou Hospital, Liuzhou, 545616, Guangxi, China.
Department of Pediatric Surgery, Guangzhou Institute of Pediatrics, Guangdong Provincial Key Laboratory of Research in Structural Birth Defect Disease, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, 9 Jinsui Road, Guangzhou, 510623, Guangdong, China.
BMC Cancer. 2025 May 19;25(1):892. doi: 10.1186/s12885-025-14310-w.
Neuroblastoma, developed from the sympathetic nervous system, is a deadly childhood malignancy. There is an urgent need to elucidate its intricated etiology. MYCN amplification leads to aggressive neuroblastoma and represents a powerful marker of poor prognosis. However, the correlation between MYCN gene polymorphisms and neuroblastoma susceptibility remains largely unknown in Chinese Han children.
We conducted a case-control study to evaluate the associations between MYCN gene polymorphisms and neuroblastoma susceptibility, involving 402 cases and 473 controls from Jiangsu Province, China. The association strength between the studied polymorphisms and neuroblastoma susceptibility was quantified using odds ratios and 95% confidence intervals.
Four studied polymorphisms (rs57961569 G > A, rs9653226 T > C, rs13034994 A > G, and rs60226897 G > A) were significantly associated with neuroblastoma susceptibility. Stratified analysis of two polymorphisms (rs13034994 A > G and rs60226897 G > A) demonstrated stronger associations with neuroblastoma susceptibility in specific subgroups. Moreover, survival analysis demonstrated elevated MYCN expression in high-risk patients, with reduced expression correlating to improved survival outcomes.
Our study indicated that MYCN gene polymorphisms are significantly associated with neuroblastoma susceptibility in the eastern Chinese population and that high expression of the MYCN gene may suggest a poor prognosis. Nevertheless, further verification should be conducted with large-scale and well-designed studies to confirm our findings.
神经母细胞瘤起源于交感神经系统，是一种致命的儿童恶性肿瘤。迫切需要阐明其复杂的病因。MYCN基因扩增导致侵袭性神经母细胞瘤，是预后不良的有力标志物。然而，在中国汉族儿童中，MYCN基因多态性与神经母细胞瘤易感性之间的相关性仍 largely 未知。
我们进行了一项病例对照研究，以评估MYCN基因多态性与神经母细胞瘤易感性之间的关联，涉及来自中国江苏省的402例病例和473例对照。使用比值比和95%置信区间对所研究的多态性与神经母细胞瘤易感性之间的关联强度进行量化。
四个所研究的多态性（rs57961569 G>A、rs9653226 T>C、rs13034994 A>G和rs60226897 G>A）与神经母细胞瘤易感性显著相关。对两个多态性（rs13034994 A>G和rs60226897 G>A）的分层分析表明，在特定亚组中与神经母细胞瘤易感性的关联更强。此外，生存分析表明高危患者中MYCN表达升高，表达降低与生存结果改善相关。
我们的研究表明，MYCN基因多态性与中国东部人群的神经母细胞瘤易感性显著相关，并且MYCN基因的高表达可能提示预后不良。然而，应通过大规模和精心设计的研究进行进一步验证以证实我们的发现。
