Naidoo R, Ramburan A, Reddi A, Chetty R
Pfizer Molecular Biology Research Facility, Doris Duke Medical Research Institute, Nelson R Mandela School of Medicine, Faculty of Health Science, University of KwaZulu Natal, Private Bag 7, Congella 4013, Durban, South Africa.
J Clin Pathol. 2005 Mar;58(3):281-4. doi: 10.1136/jcp.2003.014290.
To investigate the incidence of genetic aberrations in the DNA repair genes in a cohort of oesophageal cancers.
One hundred oesophagectomy samples of squamous cell carcinoma were studied. Normal and tumour DNA were isolated using a standard phenol/chloroform extraction procedure. Six recommended microsatellite loci with high informativity were analysed. The following markers were used: D2S123 (2p), D3S659 (3p), D3S1255 (3p), Bat 25 (4q), Bat 26 (2p), and Bat 40 (1p). The results were analysed using software attached to an automated DNA sequencer. The molecular data were then correlated with clinicopathological parameters.
The incidence of microsatellite instability and loss of heterozygosity was very low. There was no significant correlation between the clinicopathological and molecular data. However, D2S123 genetic abnormalities were seen more frequently in both moderately and well differentiated tumours than in poorly differentiated tumours (p = 0.033). Follow up data were available for only 67 of the 100 patients. Fifty patients were alive and 17 patients had died.
Low frequencies of genetic aberrations in these mismatch repair loci are found in squamous carcinomas of the oesophagus from a high incidence area in South Africa.
调查一组食管癌中DNA修复基因的基因畸变发生率。
研究了100例鳞状细胞癌的食管切除样本。使用标准的酚/氯仿提取程序分离正常和肿瘤DNA。分析了六个推荐的高信息性微卫星位点。使用了以下标记：D2S123（2p）、D3S659（3p）、D3S1255（3p）、Bat 25（4q）、Bat 26（2p）和Bat 40（1p）。使用自动DNA测序仪附带的软件分析结果。然后将分子数据与临床病理参数相关联。
微卫星不稳定性和杂合性缺失的发生率非常低。临床病理数据与分子数据之间无显著相关性。然而，D2S123基因异常在中分化和高分化肿瘤中比在低分化肿瘤中更常见（p = 0.033）。100例患者中只有67例有随访数据。50例患者存活，17例患者死亡。
在南非高发病率地区的食管鳞状癌中，这些错配修复位点的基因畸变频率较低。
