ALK gene mutations in childhood neuroblastoma

YANG Chun-Lan; YUE Li-Jie; JIANG Xian-Ping; WEN Fei-Qiu; ZHENG Miao-Miao

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Chinese Journal of Contemporary Pediatrics ›› 2012, Vol. 14 ›› Issue (10) : 763-766.

CLINICAL RESEARCH

ALK gene mutations in childhood neuroblastoma

YANG Chun-Lan, YUE Li-Jie, JIANG Xian-Ping, WEN Fei-Qiu, ZHENG Miao-Miao

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Abstract

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.

Key words

Neuroblastoma / Anaplastic lymphoma kinase / Gene mutation / Child

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YANG Chun-Lan, YUE Li-Jie, JIANG Xian-Ping, WEN Fei-Qiu, ZHENG Miao-Miao. ALK gene mutations in childhood neuroblastoma[J]. Chinese Journal of Contemporary Pediatrics. 2012, 14(10): 763-766

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