Kaczówka Przemysław, Wieczorek Aleksandra, Czogała Małgorzata, Książek Teofila, Szewczyk Katarzyna, Balwierz Walentyna
Department of Paediatric Oncology and Haematology, Institute of Paediatrics, Jagiellonian University Medical College, Krakow, Poland.
Department of Paediatric Oncology and Haematology, University Children's Hospital of Krakow, Poland.
Contemp Oncol (Pozn). 2018;22(4):223-228. doi: 10.5114/wo.2018.81402. Epub 2018 Dec 31.
Neuroblastoma (NBL) is one of the most common extracranial tumours occurring in children with gene amplification, acknowledged as a marker of poor prognosis. We assessed the frequency of amplification and its impact on NBL markers and on the treatment outcome.
Among 160 children with NBL treated from 1991 to 2015 in one centre 140 patients had known gene status, and they were enrolled in the study. The analysed group was divided into two subgroups: with and without amplification (25 and 115 children, respectively). Association of amplification with stage of the disease, levels of biochemical parameters, overall survival (OS) and failure-free survival (FFS) were analysed.
The frequency of amplification was 17.9%. Most children with amplification (64%) were classified to stage 4 NBL. The levels of biochemical markers of NBL: ferritin, dopamine, NSE, and LDH were significantly higher in the group with amplification, whereas the levels of VMA and HVA were lower. OS and FFS were significantly lower in children with amplification in comparison to children from the control group (OS 53% vs. 76%, = 0.03; FFS 50% vs. 72%, = 0.03). The impact of amplification on the treatment outcome was significant in patients with stage 4 NBL and children under one year of age.
amplification is a crucial prognostic factor in neuroblastoma, which is associated with almost all features related with poor prognosis and a higher probability of unfavourable outcome.
神经母细胞瘤（NBL）是儿童最常见的颅外肿瘤之一，存在基因扩增，这被认为是预后不良的一个标志。我们评估了基因扩增的频率及其对NBL标志物和治疗结果的影响。
1991年至2015年在一个中心接受治疗的160例NBL患儿中，140例患者已知基因状态，将他们纳入研究。分析组分为两个亚组：有基因扩增和无基因扩增（分别为25例和115例患儿）。分析基因扩增与疾病分期、生化参数水平、总生存期（OS）和无失败生存期（FFS）的相关性。
基因扩增的频率为17.9%。大多数有基因扩增的患儿（64%）被归类为4期NBL。NBL的生化标志物铁蛋白、多巴胺、NSE和LDH的水平在有基因扩增的组中显著更高，而VMA和HVA的水平更低。与对照组患儿相比，有基因扩增的患儿的OS和FFS显著更低（OS为53%对76%，P = 0.03；FFS为50%对72%，P = 0.03）。基因扩增对治疗结果的影响在4期NBL患者和1岁以下儿童中显著。
基因扩增是神经母细胞瘤的一个关键预后因素，它与几乎所有与预后不良相关的特征以及不良结局的较高可能性相关。
