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PIK3CA Mutations in Hepatocellular Carcinoma in Korea
Yonsei Medical Journal ; : 883-887, 2013.
Article in English | WPRIM | ID: wpr-99050
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.
Subject(s)

Full text: Available Index: WPRIM (Western Pacific) Main subject: Exons / Carcinoma, Hepatocellular / Phosphatidylinositol 3-Kinases / Polymorphism, Single Nucleotide / Asian People / Republic of Korea / Mutation Rate / Liver Neoplasms / Mutation Limits: Adolescent / Adult / Aged / Female / Humans / Male Country/Region as subject: Asia Language: English Journal: Yonsei Medical Journal Year: 2013 Type: Article

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Full text: Available Index: WPRIM (Western Pacific) Main subject: Exons / Carcinoma, Hepatocellular / Phosphatidylinositol 3-Kinases / Polymorphism, Single Nucleotide / Asian People / Republic of Korea / Mutation Rate / Liver Neoplasms / Mutation Limits: Adolescent / Adult / Aged / Female / Humans / Male Country/Region as subject: Asia Language: English Journal: Yonsei Medical Journal Year: 2013 Type: Article