MYCN基因与PHOX2B基因联合检测对高危神经母细胞瘤患儿危险度及预后的评估价值

The Value of Combined Detection of MYCN Gene and Phox2b Gene in Evaluating the Risk and Prognosis of Children with High-risk Neuroblastoma

目的探讨MYCN基因与PHOX2B基因联合检测在高危神经母细胞瘤(NB)患儿危险度与预后评估中的应用价值。方法选取106例高危NB患儿,于初诊时检测MYCN、PHOX2B基因的表达情况,分析两项指标与患儿病理特征的关系,并在化疗6个疗程后随访1年,以Kaplan-Meier法分析MYCN基因与PHOX2B基因与患儿预后的关系。结果106例患儿中MYCN基因扩增60例(56.60%),PHOX2B基因阳性45例(42.45%)。MYCN基因扩增患儿初诊时乳酸脱氢酶(LDH)≥1500 U/L占比高于基因正常患儿,PHOX2B基因阳性患儿中肿瘤转移部位≥3个与高神经元特异性烯醇化酶(NSE)≥370μg/L占比高于基因阴性患儿,差异有统计学意义(P<0.05)。Kaplan-Meier结果显示:MYCN基因扩增患儿与PHOX2B基因阳性患儿的1年生存率分别为48.33%(29/60)、44.44%(20/45),明显低于MYCN基因正常患儿65.22%(30/46)与PHOX2B基因阴性患儿63.93%(39/61),差异有统计学意义(P<0.05)。结论MYCN基因与PHOX2B基因在高危NB患儿危险度分层与预后的评估中具有较高的临床价值,临床可进行大力推广。

Objective To explore the application value of the combined detection of MYCN gene and PHOX2B gene in the risk and prognosis assessment of high-risk neuroblastoma(NB)in children.Methods 106 high-risk NB patients were selected,and the expression of MYCN and PHOX2B genes was detected at initial diagnosis.The relationship between the 2 indicators and the pathological characteristics of the patients was analyzed.After 6 courses of chemotherapy,a 1-year follow-up was conducted to analyze the relationship between MYCN and PHOX2B genes and the prognosis of the patients using Kaplan Meier method.Results Among the 106 children,60(56.60%)had MYCN gene amplification and 45(42.45%)had PHOX2B gene positivity.The proportion of children with MYCN gene amplification at initial diagnosis with lactate dehydrogenase(LDH)≥1500 U/L was higher than that of children with normal genes.The proportion of≥3 tumor metastasis sites and high neuron specific enolase(NSE)≥370μg/L in PHOX2B gene positive children was higher than that of gene negative children,and the difference was statistically significant(P<0.05).The Kaplan Meier results showed that the 1-year survival rates of MYCN gene amplified children and PHOX2B gene positive children were 48.33%(29/60)and 44.44%(20/45),respectively,significantly lower than 65.22%(30/46)of MYCN gene normal children and 63.93%(39/61)of PHOX2B gene negative children,with statistical significance(P<0.05).Conclusion The MYCN gene and PHOX2B gene have high clinical value in the risk stratification and prognosis evaluation of high-risk NB children,and can be vigorously promoted in clinical practice.