Association between MYCN gene polymorphisms and neuroblastoma susceptibility: a case-control study in Chinese children from Jiangsu Province.

Abstract

Background: 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.

Methods: 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.

Results: 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.

Conclusion: 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.