Detection of p53 gene mutations in fine-needle aspiration biopsy specimens from suspected breast cancers by polymerase chain reaction-single strand conformation polymorphism analysis.

降低乳腺癌患者死亡率的最佳手段是早期发现乳腺癌，细针抽吸乳腺组织活检是实现这一目的的方法之一。然而，假阴性或假阳性诊断总是会发生，这可能会降低该技术的实用性。因此，为了提高对疑似乳腺癌的抽吸活检标本的诊断准确性，我们评估了使用p53基因突变来鉴定癌细胞。从15例疑似乳腺癌病例的抽吸活检标本中提取基因组DNA，其中包括7例已知乳腺癌病例，采用聚合酶链反应-单链构象多态性（PCR-SSCP）分析方法检测p53基因突变。在15例中的5例（33%），p53基因突变被确定，这些肿瘤随后被组织学诊断为恶性。DNA流式细胞术检测15例肿瘤中，6例（40%）为异倍体恶性肿瘤，9例（60%）为二倍体良性肿瘤。5例p53基因突变的穿刺标本中，肿瘤细胞均为异倍体，p53蛋白表达阳性，组织学证实为恶性肿瘤。因此，PCR-SSCP分析的p53基因突变的检测从可疑的乳腺癌抽吸活检标本是一个有用的方法，以实现更准确的诊断。

The best means of reducing the mortality rate in the breast cancer patients is the early detection of breast cancers, and fine-needle aspirated breast tissue biopsy is one method to achieve this purpose. However, false-negative or false-positive diagnoses invariably occur and this can detract from the usefulness of the technique. Therefore, to obtain greater diagnostic accuracy with aspirated breast tissue specimens suspected of being cancers, we have evaluated the use of p53 gene mutation to identify cancer cells.Genomic DNA was extracted from aspiration biopsy specimens taken from 15 suspected cases of breast cancer, including 7 known cases of breast cancer, and the p53 gene was studies for evidence of mutation by using a polymerase chain reaction-single strand conformation polymerphism (PCR-SSCP) analysis. In 5 of the 15 cases (33%), p53 gene mutation was identified and these tumors were subsequently histologically diagnosed as malignant. Further, DNA flow cytometry of the 15 tumors demonstrated that 6 (40%) were aneuploid and malignant, whereas 9 (60%) were diploid and benign. It was also found that the tumor cells in 5 aspirated cases that showed p53 gene mutations were all aneuploid, the p53 protein expression was positive, and the tumors were proved to be histologically malignant. It was thus concluded that the detection of p53 gene mutation by PCR-SSCP analysis of aspirated biopsy specimens from suspected breast cancers is a useful method for achieving a more accurate diagnosis.