Section for Cancer Cytogenetics, Institute for Medical Informatics, The Norwegian Radium Hospital, Oslo University Hospital, Oslo, Norway.
J Transl Med. 2010 Feb 26;8:21. doi: 10.1186/1479-5876-8-21.
According to the scientific literature, less than 30 borderline ovarian tumors have been karyotyped and less than 100 analyzed for genomic imbalances by CGH.
We report a series of borderline ovarian tumors (n = 23) analyzed by G-banding and karyotyping as well as high resolution CGH; in addition, the tumors were analyzed for microsatellite stability status and by FISH for possible 6q deletion.
All informative tumors were microsatellite stable and none had a deletion in 6q27. All cases with an abnormal karyotype had simple chromosomal aberrations with +7 and +12 as the most common. In three tumors with single structural rearrangements, a common breakpoint in 3q13 was detected. The major copy number changes detected in the borderline tumors were gains from chromosome arms 2q, 6q, 8q, 9p, and 13q and losses from 1p, 12q, 14q, 15q, 16p, 17p, 17q, 19p, 19q, and 22q. The series included five pairs of bilateral tumors and, in two of these pairs, informative data were obtained as to their clonal relationship. In both pairs, similarities were found between the tumors from the right and left side, strongly indicating that bilaterality had occurred via a metastatic process. The bilateral tumors as a group showed more aberrations than did the unilateral ones, consistent with the view that bilaterality is a sign of more advanced disease.
Because some of the imbalances found in borderline ovarian tumors seem to be similar to imbalances already known from the more extensively studied overt ovarian carcinomas, we speculate that the subset of borderline tumors with detectable imbalances or karyotypic aberrations may contain a smaller subset of tumors with a tendency to develop a more malignant phenotype. The group of borderline tumors with no imbalances would, in this line of thinking, have less or no propensity for clonal evolution and development to full-blown carcinomas.
根据科学文献记载，仅有不到 30 例交界性卵巢肿瘤进行了染色体核型分析，通过 CGH 进行基因组失衡分析的不到 100 例。
我们报告了一系列交界性卵巢肿瘤（n=23）的分析结果，包括 G 显带和核型分析以及高分辨率 CGH；此外，还分析了肿瘤的微卫星不稳定性状态，并通过 FISH 检测 6q 缺失的可能性。
所有信息丰富的肿瘤均为微卫星稳定，没有 6q27 缺失。所有核型异常的病例均为单纯染色体异常，最常见的是+7 和+12。在 3 例具有单一结构重排的肿瘤中，检测到 3q13 的共同断裂点。在交界性肿瘤中检测到的主要拷贝数变化是 2q、6q、8q、9p 和 13q 的增益以及 1p、12q、14q、15q、16p、17p、17q、19p、19q 和 22q 的缺失。该系列包括 5 对双侧肿瘤，其中 2 对获得了关于其克隆关系的信息。在这两对中，右侧和左侧肿瘤之间存在相似性，强烈表明双侧性是通过转移过程发生的。双侧肿瘤作为一个组显示出比单侧肿瘤更多的异常，这与双侧性是更晚期疾病的标志的观点一致。
由于在交界性卵巢肿瘤中发现的一些不平衡似乎与从更广泛研究的明显卵巢癌中已知的不平衡相似，我们推测，在具有可检测到的不平衡或核型异常的交界性肿瘤亚组中，可能包含具有发展为更恶性表型倾向的较小肿瘤亚组。在这种思维方式中，没有不平衡的交界性肿瘤组具有较少或没有克隆进化和发展为完全恶性肿瘤的倾向。
