ALK gene mutations in childhood neuroblastoma.
- Author:
Chun-Lan YANG
1
;
Li-Jie YUE
;
Xian-Ping JIANG
;
Fei-Qiu WEN
;
Miao-Miao ZHENG
Author Information
- Publication Type:Journal Article
- MeSH: Child; Child, Preschool; Female; Humans; Infant; Infant, Newborn; Male; Mutation; Neuroblastoma; genetics; Polymerase Chain Reaction; Receptor Protein-Tyrosine Kinases; genetics
- From: Chinese Journal of Contemporary Pediatrics 2012;14(10):763-766
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo investigate mutations of anaplastic lymphoma kinase (ALK) in Chinese children with neuroblastoma (NB).
METHODSGenomic 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.
RESULTSA 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.
CONCLUSIONSA 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.
