p16^INK4a/exon 2 mutations in squamous cell carcinoma of the head and neck region

Abstract

Conclusions. In the samples of squamous cell carcinoma (SCC) of the head and neck region studied, mutations of exon 2 were quite rare. In contrast to the other three mutations, the G to C transversion on position 169 (Ala57Pro) has been found in several other studies before. Further investigations on mutations of the other exons 1α, 1β and 3 are necessary.

Objective. Alterations of p16^INK4A have been found in different types of human cancer cell lines. The aim of this study was to perform a screening for alterations of exon 2 of different SCCs of the head and neck region.

Methods. Forty samples of different SCCs of the head and neck were collected by biopsy or surgical resection. Exon 2 was amplified by using the primers 5′-GGTGAGGGGGCTCTACACAAG-3′ and 5′-GTCTCCCGGGCTGAACTTTC-3′. DNA was sequenced with the primer 5′-CGGGCTGAACTTTCTGTGCT-3′.

Results. Mutations were found in 4 of our 40 samples. One sample showed a G to C transversion on position 169 (Ala57Pro), a second sample from the same patient confirmed the latter transition but also contained a transition C to T on position 179 (Ala60Val). Another patient showed an already known polymorphism, a transition G to A at position 442 (Ala148Thr). The third case was a transversion C to A on position 213 (Asn71Lys).

• Squamous cell carcinoma
• head and neck
• MTS1
• exon 2
• mutations
• p16