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Uncommon V599E BRAF mutations in Japanese patients with lung cancer
Hidefumi Sasaki1, Osamu Kawano, Katsuhiko Endo
1Department of Surgery II, Nagoya City University Medical School, 1 Kawasumi, Nagoya 467-8601, Japan. hisasaki@med.nagoya-cu.ac.jp
Background:
Recently, somatic mutations of the epidermal growth factor receptor (EGFR) gene and Braf gene were found in patients with lung cancer. These mutations might be correlated with a clinical response to molecular target therapy. Although a few Caucasian lung cancer patients harbored BRAF mutations, there have been no reports about the BRAF mutation in Japanese patients with lung cancer.
Materials And Methods:
We investigated BRAF mutations in Japanese lung cancer patients. The study included 129 surgically removed lung cancer cases from Nagoya City University Hospital. Braf, EGFR, and erbB2 mutations also were analyzed by reverse transcript polymerase chain reaction (RT-PCR) and direct sequencing.
Results:
In exon 15, one BRAF mutation (1796 thymine to adenine; V599E) was found in nonsmoking woman with well-differentiated adenocarcinoma. We detected the 43 EGFR mutations, including 19 at exon 19 and 20 at exon 21 from the 129 patients analyzed (33.3%). We also detected one erbB2 mutation from 76 patients analyzed. All these mutations existed exclusively.
Conclusions:
V599E BRAF mutation was uncommon in Japanese lung cancer. All three genes mutations were predominantly found in female nonsmoking subjects with adenocarcinomas. However, completely exclusive mutation status would help us to choose custom-made molecular target therapy for the lung cancer.
Insights
BRAF mutations are rare in Japanese lung cancer patients. Epidermal growth factor receptor (EGFR) and erbB2 mutations were also analyzed, with all gene mutations found exclusively, aiding targeted therapy selection.
Area of Science:
- Oncology
- Molecular Biology
- Genetics
Background:
- Somatic mutations in epidermal growth factor receptor (EGFR) and BRAF genes are linked to lung cancer treatment response.
- BRAF mutations have been reported in Caucasian lung cancer patients, but not previously in Japanese populations.
Purpose of the Study:
- To investigate the prevalence of BRAF mutations in Japanese lung cancer patients.
- To analyze the co-occurrence of BRAF, EGFR, and erbB2 mutations in this cohort.
Main Methods:
- Analysis of 129 surgically resected lung cancer cases from Japanese patients.
- Reverse transcript polymerase chain reaction (RT-PCR) and direct sequencing were used to detect mutations in BRAF, EGFR, and erbB2 genes.
Main Results:
- One BRAF V599E mutation was identified in a single non-smoking female patient with adenocarcinoma.
- EGFR mutations were detected in 33.3% (43/129) of patients, and one erbB2 mutation was found in 76 analyzed patients.
- All detected mutations (BRAF, EGFR, erbB2) occurred exclusively within individual patients.
Conclusions:
- The V599E BRAF mutation is uncommon in Japanese lung cancer.
- Mutations in BRAF, EGFR, and erbB2 were predominantly observed in female, non-smoking patients with adenocarcinoma.
- The exclusive nature of these mutations suggests potential for personalized molecular targeted therapy in lung cancer.
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