Otsuka J, Okuda T, Sekizawa A, Amemiya S, Saito H, Okai T, Kushima M
Department of Obstetrics Gynecology, Showa University School of Medicine, Tokyo, Japan.
Int J Gynecol Cancer. 2004 May-Jun;14(3):459-64. doi: 10.1111/j.1048-891x.2004.014305.x.
Mutation of p53 is one of the most common genetic abnormalities detected in up to 81% of cases of ovarian cancer. To evaluate the use of plasma DNA analysis as a method for somatic mutation screening, we measured the presence of p53 mutations in DNA isolated from plasma and cancer tissue from patients with ovarian cancer. We analyzed the plasma DNA for the presence of p53 mutations (exons 5-8). Of 27 cases of ovarian cancer, 12 cases (44%) had mutations of p53 in cancer tissue. In two of the 12 cases (16.7%), identical mutations were detected in DNA of their preoperative plasma. In our follow-up of the two patients with p53 mutations in their plasma, mutant DNA was undetectable in their plasma after surgery. In one case, the p53 mutation re-surfaced in their plasma 16 months after surgery, and the patient died 2 months later. We have shown that tumor-derived DNA can be detected in the plasma of some patients with ovarian cancer, particularly in those with more advanced stage.
p53突变是在高达81%的卵巢癌病例中检测到的最常见的基因异常之一。为了评估血浆DNA分析作为一种体细胞突变筛查方法的应用,我们检测了卵巢癌患者血浆和癌组织中分离出的DNA中p53突变的存在情况。我们分析血浆DNA中p53突变(第5 - 8外显子)的存在情况。在27例卵巢癌病例中,12例(44%)癌组织中有p53突变。在这12例中的2例(16.7%),术前血浆DNA中检测到相同的突变。在我们对血浆中存在p53突变的两名患者的随访中,术后血浆中未检测到突变DNA。在1例患者中,术后16个月血浆中p53突变再次出现,2个月后患者死亡。我们已经表明,在一些卵巢癌患者的血浆中可以检测到肿瘤来源的DNA,特别是在那些晚期患者中。