Department of Obstetrics and Gynecology, Kochi Medical School, Kochi, Japan.
Eur J Obstet Gynecol Reprod Biol. 2013 Nov;171(1):96-100. doi: 10.1016/j.ejogrb.2013.08.003. Epub 2013 Aug 9.
p53 gene mutations are frequently identified in ovarian cancer tissue. The aim of this study was to investigate whether wild type or mutated genomic DNA can be identified in ovarian cystic fluid specimens.
Forty-eight Japanese patients with cystic ovarian tumors (30 benign cysts, 8 borderline malignant tumors, and 10 cancers) were investigated. Cystic fluid and tumor tissue were obtained during surgery. After DNA extraction from the cystic fluid, polymerase chain reaction (PCR) and sequence analysis for exons 4-9 of the p53 gene was performed. In two cases of mucinous cystic tumor of borderline malignancy and endometrioid adenocarcinoma, the p53 gene sequences were determined. Immunohistochemical staining for abnormal p53 gene product was also performed.
DNA was successfully extracted from all cystic fluid specimens. Furthermore, exons 4-9 of the p53 gene could be identified by electrophoresis from all samples. In a mucinous cystic tumor of borderline malignancy, one point mutation was identified at codon 223 in exon 6 (CCT → CTT) of the p53 gene. Aberrant p53 gene product was also observed in the tumor cells by immunohistochemical staining. Moreover, in another case of endometrial adenocarcinoma, a point mutation at codon 245 in exon 7 (GGC → AGC) was detected by the direct sequencing of the amplified Exon. Notably, the mutation was not present in the peripheral blood (PB) sample and tissue specimens from the patient.
In cystic ovarian tumors, cystic fluid may provide informative material for molecular studies since it reflects the p53 status of tumor tissue in the cyst wall. This system might help to identify ovarian malignancy without resection of the tumor tissues.
p53 基因突变在卵巢癌组织中经常被发现。本研究旨在探讨在卵巢囊液标本中是否可以识别野生型或突变型基因组 DNA。
对 48 例日本囊性卵巢肿瘤患者(30 例良性囊肿、8 例交界性肿瘤和 10 例癌症)进行了研究。在手术期间获得了囊液和肿瘤组织。从囊液中提取 DNA 后,进行了 p53 基因外显子 4-9 的聚合酶链反应(PCR)和序列分析。在 2 例交界性黏液性囊性肿瘤和子宫内膜样腺癌中,测定了 p53 基因序列。还进行了异常 p53 基因突变产物的免疫组织化学染色。
所有囊液标本均成功提取 DNA。此外,所有样本的电泳均可识别 p53 基因的外显子 4-9。在交界性黏液性囊性肿瘤中,在外显子 6 的密码子 223 发现一个点突变(CCT→CTT)。免疫组织化学染色也观察到肿瘤细胞中异常的 p53 基因突变产物。此外,在另一个子宫内膜样腺癌病例中,通过扩增外显子的直接测序检测到 7 号外显子的密码子 245 点突变(GGC→AGC)。值得注意的是,该突变不存在于患者的外周血(PB)样本和组织标本中。
在囊性卵巢肿瘤中,囊液可能为分子研究提供有价值的材料,因为它反映了囊壁肿瘤组织的 p53 状态。该系统有助于在不切除肿瘤组织的情况下识别卵巢恶性肿瘤。