日本终止 6 月龄儿童神经母细胞瘤群体筛查的风险和获益。

Risks and benefits of ending of mass screening for neuroblastoma at 6 months of age in Japan.

机构信息

Department of Pediatric Surgery, Graduate School of Medical Sciences, Kyushu University, Fukuoka 812-8582, Japan.

出版信息

J Pediatr Surg. 2009 Dec;44(12):2253-7. doi: 10.1016/j.jpedsurg.2009.07.050.

DOI:10.1016/j.jpedsurg.2009.07.050

PMID:20006005

Abstract

PURPOSE

The mass screening (MS) for neuroblastoma (NB) at 6 months of age in Japan was discontinued in 2004. This study assessed the risks and benefits of MS based on an analysis of NB detected before or after discontinuation of MS in Japan.

METHODS

The clinical features and Brodeur's genetic type based on MYCN, DNA ploidy, and other genetic aberrations were assessed in 113 NB patients (20 cases after and 93 cases [55 MS cases] before the discontinuation of MS) older than 6 months treated at one institution since 1985.

RESULTS

The 20 patients with NBs detected after MS was discontinued ranged in age from 7 to 67 months, 12 patients were stage 4, and 11 patients would have been detected at 6 months of age if they had undergone MS. The Brodeur's genetic type of these 20 patients showed that 30% (6/20) were type 1 (low risk), 55% (11/20) were type 2A (intermediate risk), and 15% (3/20) were type 2B (high risk). Of 93 patients with NB detected before MS was discontinued, 60% (56/93) were type 1, 18% (17/93) were type 2A, and 22% (20/93) were type 2B. Among the type 2A patients, 82% (9/11) of the patients detected after MS was discontinued showed stage 4, whereas only 50% (9/18) of those diagnosed before MS was discontinued were stage 4. The genetic analysis using single nucleotide polymorphism (SNP) array for type 2A showed that the pattern of genetic aberration was equivalent in those detected either before or after MS was discontinued.

CONCLUSIONS

There was a decrease of type 1 and an increase of type 2A NB in patients after MS was discontinued in Japan. These results suggest that most of the type 1 detected by MS has regressed, and most of the type 2A detected by MS has appeared sporadically as advanced NB in patients older than 1 year.

摘要

目的

日本已于 2004 年停止对 6 个月龄婴儿进行神经母细胞瘤（NB）的大规模筛查（MS）。本研究通过分析日本停止 MS 前后检测到的 NB，评估 MS 的风险和获益。

方法

评估了一家机构自 1985 年以来收治的 113 例 6 个月以上的 NB 患者（20 例为 MS 停止后发现，93 例[55 例为 MS 前发现]）的临床特征和 Brodeur 基因类型，其基于 MYCN、DNA 倍体和其他基因异常。

结果

20 例 MS 停止后发现的 NB 患者年龄为 7-67 个月，12 例为 4 期，若进行 MS，则 11 例可在 6 个月时发现。这 20 例患者的 Brodeur 基因类型显示，30%（6/20）为 1 型（低风险），55%（11/20）为 2A 型（中危），15%（3/20）为 2B 型（高危）。在 93 例 MS 停止前发现的 NB 患者中，60%（56/93）为 1 型，18%（17/93）为 2A 型，22%（20/93）为 2B 型。在 2A 型患者中，MS 停止后发现的 11 例患者中有 82%（9/11）为 4 期，而 MS 停止前发现的 18 例患者中仅有 50%（9/18）为 4 期。对 2A 型患者进行基于单核苷酸多态性（SNP）阵列的基因分析显示，MS 前后发现的患者的基因异常模式相当。