Oltra Silvestre, Martinez Francisco, Orellana Carmen, Grau Elena, Fernandez Jose M, Cañete Adela, Castel Victoria
Unidad de Genetica, Hospital Universitario La Fe, Valencia, Spain.
Diagn Mol Pathol. 2005 Mar;14(1):53-7. doi: 10.1097/01.pas.0000149876.32376.c0.
Neuroblastoma (NB) is a pediatric cancer of highly variable clinical outcome. Much effort is devoted to detection of minimal residual (MRD) disease through RT-PCR or immunology of tissue-specific markers. Tyrosine hyrdroxylase (TH) has demonstrated a high utility to assess disease dissemination, although this marker can be lost due to clonal variability. Here we propose the use of the doublecortin (DCX) gene as a new molecular marker of neuroblastoma cells. DCX specifically appears in migrating neurons of the central and peripheral nervous system and interacts with and regulates the microtobule cytoskeleton. We have studied this gene by real-time quantitative RT-PCR in a total of 47 primary tumors and 202 samples of bone marrow or peripheral blood from 34 high-risk neuroblastoma patients as well as in 41 normal controls. The expression of DCX demonstrated a good specificity and concordance with TH, showing a higher expression rate in all the sample types studied as well as at different time points from diagnosis. We conclude that DCX would be a more efficient marker of minimal disease in neuroblastoma and perhaps other tumors of neuronal lineage.
神经母细胞瘤（NB）是一种临床预后差异很大的儿科癌症。人们致力于通过逆转录聚合酶链反应（RT-PCR）或组织特异性标志物免疫检测微小残留（MRD）疾病。酪氨酸羟化酶（TH）已被证明在评估疾病播散方面具有很高的实用性，尽管由于克隆变异性该标志物可能会丢失。在此，我们提出将双皮质素（DCX）基因用作神经母细胞瘤细胞的一种新的分子标志物。DCX特异性出现在中枢和外周神经系统的迁移神经元中，并与微管细胞骨架相互作用并对其进行调节。我们通过实时定量RT-PCR对总共47例原发性肿瘤以及来自34例高危神经母细胞瘤患者的202份骨髓或外周血样本以及41例正常对照进行了该基因的研究。DCX的表达显示出良好的特异性且与TH一致，在所有研究的样本类型以及诊断后的不同时间点均显示出较高的表达率。我们得出结论，DCX可能是神经母细胞瘤以及或许其他神经谱系肿瘤中微小疾病的更有效标志物。
