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Epidermal growth factor receptor gene mutations in papillary thyroid carcinoma
Katsuhiro Masago1, Ryo Asato, Shiro Fujita
1Department of Respiratory Medicine, Graduate School of Medicine, Kyoto University, Kyoto, Japan.
International Journal of Cancer
|March 3, 2009
Summary
EGFR mutations, common in lung cancer, were found in papillary thyroid cancer. These mutations suggest EGFR inhibitors may treat some thyroid cancer patients.
Area of Science:
- Oncology
- Molecular Biology
- Genetics
Background:
- Somatic mutations in the epidermal growth factor receptor (EGFR) gene are key in non-small cell lung cancer (NSCLC) treatment.
- EGFR mutations are primarily found in pulmonary adenocarcinoma, predicting sensitivity to EGFR-tyrosine kinase inhibitors.
Observation:
- A patient with advanced papillary thyroid carcinoma (PTC) initially misdiagnosed as pulmonary adenocarcinoma showed significant response to gefitinib.
- This patient's tumor harbored an EGFR exon 19 in-frame deletion (codons 746-750) and a serine-to-proline substitution (codon 752), common drug-sensitive mutations in lung adenocarcinoma.
Findings:
- EGFR tyrosine kinase domain mutations, similar to those in lung adenocarcinoma, were detected in 7 out of 23 (30%) primary PTC tumors.
- EGFR gene amplification, a response predictor, was infrequent, with only one FISH-positive case.
Implications:
- The high frequency of EGFR-activating mutations in PTC suggests a potential role in tumor development.
- EGFR-tyrosine kinase inhibitors may be a viable treatment option for a subset of papillary thyroid carcinoma patients.
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