PIK3CA Mutations in Hepatocellular Carcinoma in Korea.
10.3349/ymj.2013.54.4.883
- Author:
Heesue KIM
1
;
Cheol Keun PARK
;
Su Jin LEE
;
Sun Young RHA
;
Kyu Hyun PARK
;
Ho Yeong LIM
Author Information
1. Department of Clinical Research, Samsung Biomedical Research Institute, Seoul, Korea.
- Publication Type:Original Article ; Research Support, Non-U.S. Gov't
- Keywords:
PIK3CA;
mutation;
hepatocellular carcinoma
- MeSH:
Adolescent;
Adult;
Aged;
Asian Continental Ancestry Group/genetics;
Carcinoma, Hepatocellular/*genetics;
Exons;
Female;
Humans;
Liver Neoplasms/*genetics;
Male;
Middle Aged;
*Mutation;
Mutation Rate;
Phosphatidylinositol 3-Kinases/*genetics;
Polymorphism, Single Nucleotide;
Republic of Korea;
Young Adult
- From:Yonsei Medical Journal
2013;54(4):883-887
- CountryRepublic of Korea
- Language:English
-
Abstract:
PURPOSE: Phosphatidylinositol 3-kinases/AKT pathway plays a pivotal role in hepatocellular carcinoma (HCC). Mutant PIK3CA, encoding the p110a catalytic subunit, stimulates the AKT pathway and promotes cell growth in various cancers. PIK3CA mutation rate has been usually reported as low frequency (<5%) in HCC except one report from Korea with 35.6%. Therefore, we investigated the frequency of PIK3CA mutations in Korean HCC patients. MATERIALS AND METHODS: We sequenced exons1, 3, 4, 6, 7, 8, 9, 19 and 20 of PIK3CA in 268 HCC tumor tissue samples by Sanger method and pyrosequencing assay. RESULTS: In this study, the mutations were not detected in exons3, 6, 8, and 19, and detected 1 at unknown SNP in exon1 and exon4, 2 at unknown SNP in exon7, 2 at unknown SNP in exon20. However, 1 at unknown SNP, 1 at G1635T and surprisingly all samples at A1634Cin exon9 were detected by Sanger method. Additional experiments with normal tissue, cloning experiments and a pyrosequencing assay revealed that the double peak at A1634C of exon9 is a pseudogene, not true mutation. The mutations found in this study were all different and small numbers, therefore, we cannot conclude specific relationship between clinical characteristics of HCC and mutation of PIK3CA. CONCLUSION: Our study suggests that the rate of PIK3CA mutation in the Korea population is in fact similar to the rates seen elsewhere in the world.
