The aim of this study is to investigate the incidence of genetic instability, defined as microsatellite instability (MI) or loss of heterozygosity (LOH) in cervical carcinoma and its relationship with clinical characteristics.

Twenty-four patients with cervical carcinoma were studied. Genomic DNA was extrected from tumor tissues collected from consenting patients undergoing surgery. MI and LOH were analyzed with five microsatellite regions on chromosome 2, 3 and 6 (D2S123; 2p16-2p16 and 2p21-2p16, D3S1619; 3p24.2-3p22, D6S291; 6p21.3-6p21.2, D6S308; 6q16.3-6q27, D6S270; 6q22.3-6q23.2) by polymerase chain reaction (PCR) and automatic laser fluorescent DNA sequencer. MI was defined as tumor-associated alteration in at least of one of five dinucleotide microsatellite markers examined. The relationship between genetic instability and clinical profile was analyzed. The significance of BAT-26 sequence size as a marker of replication error (RER) phenotype was assessed.

Total genetic instability was detected in 79%(19/24) of cervical carcinoma. MI was detected in 50% of the cervical carcinomas and LOH in 45.8%. BAT-26 size variation was observed only in one case. There was no statistically significant difference between the groups of positive and negative genetic instability in human papillomavirus (HPV) 16 or 18 positive rate, stage, 2 year-survival rate.

This results suggest that MI and LOH are present in a subset of cervical carcinoma and may have a role for carcinogenesis as co-factors. BAT-26 has no value as a marker of RER in cervical cancer.