Genetic mutation of transforming growth factor beta type II receptor in oral squamous cell carcinoma

Background and aim: The deregulation of transforming growth factor β (TGF-β) action and its signaling function has been a widely accepted concept in carcinogenesis. However, its dual roles, as a tumor suppressor gene and oncogene, have interfered in applying TGF-β signaling to cancer therapeutics. To evaluate its role in the carcinogenesis of oral squamous cell carcinoma (OSCC), we performed mutational analysis of the TGF-β type II receptor (TβRII). Methods: Eighteen cases of OSCC were used for mutational analysis of TβRII. Normal surgical margin, dysplastic lesion, invasive carcinoma and metastatic cancer cells into lymph node tissue were used. Exon-specific spanning primers of exon 1, 2, 3, 4, 5, 6, 7 of TβRII were used for the mutational analysis. Results: A single nucleotide polymorphism (SNP) at the codon 191 was found in 8 cases. The genetic mutations were mainly found in exon 4 through dysplastic areas, carcinoma and metastatic areas, which induced the structural change or the alteration of hydrophobicity of the amino acid. Conclusions:. TβRII mutations occur frequently in exon 4 in OSCC and their functional significance should be proven.