ALK gene mutations in childhood neuroblastoma / 中国当代儿科杂志
Chinese Journal of Contemporary Pediatrics
;
(12): 763-766, 2012.
Article
in Chinese
| WPRIM
| ID: wpr-353870
ABSTRACT
<p><b>OBJECTIVE</b>To investigate mutations of anaplastic lymphoma kinase (ALK) in Chinese children with neuroblastoma (NB).</p><p><b>METHODS</b>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.</p><p><b>RESULTS</b>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.</p><p><b>CONCLUSIONS</b>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.</p>
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Polymerase Chain Reaction
/
Receptor Protein-Tyrosine Kinases
/
Genetics
/
Mutation
/
Neuroblastoma
Limits:
Child
/
Child, preschool
/
Female
/
Humans
/
Infant
/
Male
/
Infant, Newborn
Language:
Chinese
Journal:
Chinese Journal of Contemporary Pediatrics
Year:
2012
Type:
Article
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