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KRAS and BRAF mutations in 203 esophageal squamous cell carcinomas: pyrosequencing technology and literature review

Hironobu Shigaki1, Yoshifumi Baba, Masayuki Watanabe

  • 1Department of Gastroenterological Surgery, Graduate School of Medical Science, Kumamoto University, Kumamoto, Japan.

Annals of Surgical Oncology
|January 1, 2013
PubMed
Abstract

Insights

KRAS and BRAF mutations are very rare in esophageal squamous cell carcinoma (ESCC), suggesting they play a limited role in disease development. Mutation analysis for these genes is not a useful screening test for anti-EGFR therapy in ESCC.

Area of Science:

  • Oncology
  • Molecular Biology
  • Genetics

Background:

  • Epidermal growth factor receptor (EGFR) signaling is a key target for esophageal squamous cell carcinoma (ESCC) therapies.
  • Accurate molecular diagnosis of KRAS and BRAF mutations is crucial for therapeutic decision-making in ESCC.
  • Previous studies on KRAS and BRAF mutation frequencies in ESCC are limited by small sample sizes.

Purpose of the Study:

  • To determine the frequency of KRAS and BRAF mutations in a large cohort of resected ESCC.
  • To evaluate the utility of pyrosequencing for high-throughput mutation detection in ESCC.
  • To assess the clinical relevance of KRAS and BRAF mutations in ESCC development and anti-EGFR therapy response.

Main Methods:

  • A high-throughput pyrosequencing assay was employed to analyze KRAS and BRAF mutations.
  • The study utilized a nonbiased database of 203 resected ESCC samples.
  • Pyrosequencing method validity was confirmed using established mutation detection techniques and cell lines.

Main Results:

  • The KRAS mutation was found in only 1 out of 203 ESCC samples (0.5%).
  • No BRAF mutations were detected in the 203 ESCC samples (0%).
  • The pyrosequencing assay demonstrated high accuracy in detecting known KRAS and BRAF mutations.

Conclusions:

  • KRAS and BRAF mutations appear to play a minimal role in the pathogenesis of ESCC.
  • Routine mutation analysis for KRAS and BRAF is unlikely to be beneficial as a screening test for anti-EGFR therapy in ESCC patients.

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