Yang Chun-Lan, Yue Li-Jie, Jiang Xian-Ping, Wen Fei-Qiu, Zheng Miao-Miao
Institute of Pediatric Research, Shenzhen Children's Hospital of Chongqing Medical University, Shenzhen, Guangdong 518026, China.
Zhongguo Dang Dai Er Ke Za Zhi. 2012 Oct;14(10):763-6.
To investigate mutations of anaplastic lymphoma kinase (ALK) in Chinese children with neuroblastoma (NB).
Genomic DNA was extracted from 22 cases of paraffin-embedding NB tumor tissues. Gene mutations in the exons 20-26 which were mutational hotspots of ALK were analyzed by PCR-DNA direct sequencing.
A novel synonymous mutation C3586T (Leu1196Leu) and a known synonymous mutation C3375A (Gly1125Gly) were found and located at exon 23 and exon 21 of ALK respectively. There were 10 cases (46%) of known synonymous mutation C3375A in 22 cases of NB. The C3375A allelic frequency was 27%. No statistically significant correlation was found between mutation C3375A and clinical parameters of NB such as age, sex, metastasis and tumor differentiation. Mutation was not found in the other 5 exons.
A novel ALK gene synonymous mutation C3586T was identified using PCR-DNA sequencing. A known mutation C3375A in ALK was successfully identified in children, and its incidence is not influenced by the clinical features of childhood NB.
研究中国神经母细胞瘤（NB）患儿间变性淋巴瘤激酶（ALK）的突变情况。
从22例石蜡包埋的NB肿瘤组织中提取基因组DNA。采用PCR-DNA直接测序法分析ALK基因第20-26外显子的基因突变情况，这些外显子是ALK的突变热点区域。
发现一个新的同义突变C3586T（Leu1196Leu）和一个已知的同义突变C3375A（Gly1125Gly），分别位于ALK基因的第23外显子和第21外显子。22例NB患儿中有10例（46%）存在已知的同义突变C3375A。C3375A等位基因频率为27%。未发现突变C3375A与NB的年龄、性别、转移及肿瘤分化等临床参数之间存在统计学显著相关性。在其他5个外显子中未发现突变。
采用PCR-DNA测序法鉴定出一个新的ALK基因同义突变C3586T。成功鉴定出儿童中已知的ALK突变C3375A，其发生率不受儿童NB临床特征的影响。
