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Updated: Jun 14, 2026

Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors
Published on: September 20, 2016
MEK1 and AKT2 mutations in Japanese lung cancer
Hidefumi Sasaki1, Yu Hikosaka, Osamu Kawano
1Department of Oncology, Immunology and Surgery II, Nagoya City University Graduate School of Medical Sciences, Nagoya, Japan. hisasaki@med.nagoya-cu.ac.jp
Background:
Recently, to identify potential somatic mutations in genes of epidermal growth factor receptor (EGFR) signaling pathway, MEK1 gene mutation at exon 2 and mutation of the AKT2 (v-akt murine thymoma viral oncogene homologue 2) gene at kinase domain have been reported in non-small cell lung cancer.
Methods:
We investigated the MEK1 mutation (n = 280) and AKT2 mutation (n = 273) in surgically treated non-small cell lung cancer cases. The presence or absence of MEK1 mutation (exon 2) and AKT2 mutation at kinase domain was analyzed by direct sequences.
Results:
MEK1 mutation (K57K) was found from 1 of 280 patients with lung cancer (0.4%) and detected only one case (0.4%) of AKT2 mutation (R371H) in our cohort. MEK1 mutation was exclusive with EGFR, K-ras, and B-raf mutations at kinase domain. However, AKT2 mutation was coexisted with EGFR and PIK3CA mutations.
Conclusion:
This study demonstrated that mutation in the kinase domain of AKT2 and MEK1 exon 2 mutation occurred in a small fraction of Japanese lung cancers.
Insights
MEK1 and AKT2 gene mutations are rare in non-small cell lung cancer. AKT2 mutations co-occurred with EGFR and PIK3CA mutations, unlike MEK1 mutations which were exclusive.
Area of Science:
- Oncology
- Molecular Biology
- Genetics
Background:
- Somatic mutations in the epidermal growth factor receptor (EGFR) signaling pathway are implicated in non-small cell lung cancer (NSCLC).
- Previous reports identified MEK1 gene mutations in exon 2 and AKT2 (v-akt murine thymoma viral oncogene homologue 2) gene mutations in the kinase domain in NSCLC.
Purpose of the Study:
- To investigate the frequency and co-occurrence patterns of MEK1 and AKT2 mutations in surgically treated NSCLC.
- To analyze MEK1 exon 2 and AKT2 kinase domain mutations in a cohort of Japanese lung cancer patients.
Main Methods:
- Direct sequencing was used to analyze MEK1 (n=280) and AKT2 (n=273) mutations in NSCLC patient samples.
- Mutation status of MEK1 (exon 2) and AKT2 (kinase domain) was determined for each case.
Main Results:
- MEK1 mutation (K57K) was detected in 1 out of 280 (0.4%) NSCLC patients.
- AKT2 mutation (R371H) was found in 1 out of 273 (0.4%) NSCLC patients.
- MEK1 mutations were mutually exclusive with EGFR, K-ras, and B-raf mutations, while AKT2 mutations coexisted with EGFR and PIK3CA mutations.
Conclusions:
- Mutations in the kinase domain of AKT2 and MEK1 exon 2 occur infrequently in Japanese NSCLC.
- The distinct co-mutation profiles of MEK1 and AKT2 suggest different roles in NSCLC pathogenesis.
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