title: [ALK gene mutations in childhood neuroblastoma].
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.
authors.affiliation: Institute of Pediatric Research, Shenzhen Children's Hospital of Chongqing Medical University, Shenzhen, Guangdong 518026, China.
authors.forename: Chun-Lan
authors.initials: CL
authors.lastname: Yang
authors.forename: Li-Jie
authors.initials: LJ
authors.lastname: Yue
authors.forename: Xian-Ping
authors.initials: XP
authors.lastname: Jiang
authors.forename: Fei-Qiu
authors.initials: FQ
authors.lastname: Wen
authors.forename: Miao-Miao
authors.initials: MM
authors.lastname: Zheng
mesh_terms: D000077548:Anaplastic Lymphoma Kinase; D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D009154:Mutation; D009447:Neuroblastoma / Q000235:genetics*; D016133:Polymerase Chain Reaction; D020794:Receptor Protein-Tyrosine Kinases / Q000235:genetics*
chemical_list: C000626173:ALK protein, human; D000077548:Anaplastic Lymphoma Kinase; D020794:Receptor Protein-Tyrosine Kinases