Influence of Neuroblastoma Stage on Serum-Based Detection of MYCN Amplification
Influence of Neuroblastoma Stage on Serum-Based Detection of MYCN Amplification
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DOI：
10.1002/pbc.22009
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发表时间：
2009-09-01
影响因子：
3.2
通讯作者：
Puisieux, Alain
中科院分区：
文献类型：
--
作者：
Combaret, Valerie;Hogarty, Michael D.;Puisieux, Alain
背景。 MYCN 癌基因扩增被定义为神经母细胞瘤 (NB) 最重要的预后因素，神经母细胞瘤是儿童最常见的颅外实体瘤。高拷贝数与肿瘤快速进展和不良结果密切相关，与肿瘤分期或患者年龄无关，这已成为治疗分层的重要因素。程序。通过实时定量 PCR 分析，我们评估了 267 名 18 个月以下儿童局部或转移性 NB 患者循环 MYCN DNA 的临床相关性。结果。对于该年龄段 INSS 4 期或 4S NB 期患者以及 3 期患者，与直接肿瘤基因测定相比，基于血清的 MYCN DNA 序列测定具有良好的灵敏度（分别为 85%、83% 和 75%）和高特异性（100%）。相反，该方法显示 I 期和 2 期疾病患者的敏感性较低。结论。我们的结果表明，基于血清的 MYCN DNA 序列测定的敏感性取决于疾病的阶段。然而，这种简单、可重复的检测可能是一种相当敏感且非常具体的工具，用于评估 3 期和转移性疾病病例的肿瘤 MYCN 状态，通常建议对这些病例采取观望策略。儿科血癌 2009；53：329-331。 (C) 2009 Wiley-Liss, Inc.
Background. MYCN oncogene amplification has been defined as the most important prognostic factor for neuroblastoma (NB), the most common solid extracranial neoplasm in children. High copy numbers are strongly associated with rapid tumor progression and poor Outcome, independently of tumor stage or patient age, and this has become an important factor in treatment stratification. Procedure. By real-time quantitative PCR analysis, we evaluated the clinical relevance of circulating MYCN DNA of 267 patients with locoregional or metastatic NB in children less than 18 months of age. Results. For patients in this age group with INSS stage 4 or 4S NB and stage 3 patients, serum-based determination of MYCN DNA sequences had good sensitivity (85%, 83%, and 75% respectively) and high specificity (100%) when compared to direct tumor gene determination. in contrast, the approach showed low sensitivity patients with stages I and 2 disease. Conclusion. Our results show that the sensitivity of the serum-based MYCN DNA sequence determination depends on the stage of the disease. However, this simple, reproducible assay may represent a reasonably sensitive and very specific tool to assess tumor MYCN status in cases with stage 3 and metastatic disease for whom a wait and see strategy is often recommended. Pediatr Blood Cancer 2009;53:329-331. (C) 2009 Wiley-Liss, Inc.