Gene amplification at chromosome 1pter-p33 including the genes PAX7 and ENO1 in squamous cell lung carcinoma

Gene amplification is a frequent event in lung cancer, specifically in squa mous cell lung carcinoma. Recently, we reported amplifications on chromosom al bands 3q26.1-q26.3 with the genes BCHE and SLC2A2 amplified in 40% of sq uamous cell lung carcinomas. Here, we identified an amplified domain within chromosomal bands 1pter-p33 in squamous cell lung carcinoma using reverse chromosome painting. A panel of nine genes which have previously been assig ned to region 1pter-p33 was tested for amplification using comparative PCR. The ENO1 gene that encodes enolase and the PAX7 gene that encodes a transc ription factor were most frequently amplified. Specifically, the gene ENO1 was amplified in six and the gene PAX7 in five out of 37 cases which includ ed both biopsies and paraffin-embedded tissues of squamous cell lung carcin omas. In total, we identified amplifications of at least one gene at bands 1pter-p33 in 10 out of 37 tumors (27%). Together, our data indicate that a novel and frequent amplification unit is present in squamous cell lung carc inoma with the center of the amplified domain in the vicinity of the genes PAX7 and ENO1.