Chen X, Bonnefoi H, Diebold-Berger S, Lyautey J, Lederrey C, Faltin-Traub E, Stroun M, Anker P
Département de Biochimie et de Physiologie Végétale, Faculté des Sciences, Université de Genève, Geneva, Switzerland.
Clin Cancer Res. 1999 Sep;5(9):2297-303.
Chromosomal abnormalities are associated with the development of breast cancer, and widespread allelic loss or imbalance is frequently found in tumor tissues taken from patients with this disease. Using different markers, we studied a total of 61 patients (divided into three groups) for the presence of microsatellite instability and loss of heterozygosity (LOH) in plasma or serum DNA. Of the initial 27 patients, 35% of the tumor samples displayed LOH, whereas 15% had identical alterations in the corresponding plasma samples. In addition, the adjacent normal breast tissue of two patients also displayed LOH. In a second group of 11 patients, 45% of the tumors displayed LOH, and 27% displayed identical plasma DNA alterations; one case displayed an identical LOH in adjacent nontumor tissue. In a third series of 23 patients also studied with tetranucleotide repeats, 81% of the tumor samples displayed LOH, whereas 48% had LOH in the corresponding serum samples. The fact that small tumors (T1) of histoprognostic grade 1 or in situ carcinomas could present DNA alterations in the plasma/serum at an early stage, allied to the widely increased range of available microsatellite markers, suggests that plasma or serum DNA may become a useful diagnostic tool for early and potentially curable breast cancer.
染色体异常与乳腺癌的发生有关，并且在患有这种疾病的患者的肿瘤组织中经常发现广泛的等位基因缺失或失衡。我们使用不同的标记物，对总共61名患者（分为三组）的血浆或血清DNA中的微卫星不稳定性和杂合性缺失（LOH）情况进行了研究。在最初的27名患者中，35%的肿瘤样本显示出LOH，而15%的相应血浆样本有相同的改变。此外，两名患者的相邻正常乳腺组织也显示出LOH。在第二组11名患者中，45%的肿瘤显示出LOH，27%显示出相同的血浆DNA改变；1例在相邻的非肿瘤组织中显示出相同的LOH。在第三组同样用四核苷酸重复序列研究的23名患者中，81%的肿瘤样本显示出LOH，而48%的相应血清样本有LOH。组织预后分级为1级的小肿瘤（T1）或原位癌在早期血浆/血清中可出现DNA改变，再加上可用微卫星标记物的范围广泛增加，这表明血浆或血清DNA可能成为早期和潜在可治愈乳腺癌的一种有用诊断工具。
