J Korean Gastric Cancer Assoc.  2004 Dec;4(4):268-271.

Mutational Analysis of the Epidermal Growth Factor Receptor Gene in Gastrointestinal Stromal Tumors

• Yoo NJ
• Lee JW
• Soung YH
• Jeon HM
• Nam SW
• Kim SY
• Park WS
• Lee JY
• Lee SH

Abstract

PUPOSE: Most gastrointestinal stromal tumors (GISTs) have gain-of-function mutations of the KIT or the platelet-derived growth factor receptor alpha (PDGFRA) genes, but approximately 10% of the GISTs are wild types for both the KIT and the PDGFRA genes. The purpose of this study was to investigate the possibility that epidermal growth factor receptor (EGFR) gene mutation might be responsible for the pathogenesis of GIST.
MATERIALS AND METHODS
We analyzed the EGFR gene in 60 GISTs for the detection of somatic mutations by using the polymerase chain reaction (PCR), the single strand conformation polymorphism (SSCP), and DNA sequencing in exon 18, 19, and 21 encoding the kinase domain.
RESULTS
The SSCP analysis revealed no evidence of EGFR mutations in exon 18, 19, and 21 in GISTs.
CONCLUSION
The data indicate that the EGFR gene may not be mutated in human GIST and suggest that therapies targeting the mutated EGFR gene products might not be useful in the treatment of GISTs.

Keyword

Epidermal growth factor receptor gene; Gastrointestinal stromal tumor; Mutation

MeSH Terms

Epidermal Growth Factor*
Exons
Gastrointestinal Stromal Tumors*
Genes, erbB-1
Humans
Phosphotransferases
Polymerase Chain Reaction
Polymorphism, Single-Stranded Conformational
Receptor, Epidermal Growth Factor*
Receptors, Platelet-Derived Growth Factor
Sequence Analysis, DNA
Epidermal Growth Factor
Phosphotransferases
Receptor, Epidermal Growth Factor
Receptors, Platelet-Derived Growth Factor