Related Experiment Video
Updated: May 17, 2026
Mosaic Zebrafish Transgenesis for Functional Genomic Analysis of Candidate Cooperative Genes in Tumor Pathogenesis
Published on: March 31, 2015
[ALK gene mutations in childhood neuroblastoma]
Chun-Lan Yang1, Li-Jie Yue, Xian-Ping Jiang
1Institute of Pediatric Research, Shenzhen Children's Hospital of Chongqing Medical University, Shenzhen, Guangdong 518026, China.
Objective:
To investigate mutations of anaplastic lymphoma kinase (ALK) in Chinese children with neuroblastoma (NB).
Methods:
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.
Results:
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.
Conclusions:
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.
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