Cytogenetic alterations in ovarian clear cell carcinoma detected by comparative genomic hybridisation
Cytogenetic alterations in ovarian clear cell carcinoma detected by comparative genomic hybridisation
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DOI：
10.1038/sj.bjc.6600896
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发表时间：
2003-05-19
影响因子：
8.8
通讯作者：
Bell, S
中科院分区：
文献类型：
--
作者：
Dent, J;Hall, GD;Bell, S
卵巢透明细胞癌（OCCC）在所有卵巢癌中所占比例虽小但很重要，是一种独特的临床和病理实体。它往往与化疗反应率较差和预后较差有关。对于可能的潜在遗传变化知之甚少。使用比较基因组杂交 (CGH) 分析从 18 个纯 OCCC 病例的石蜡包埋样本中提取的 DNA 是否存在遗传失衡。所有 18 例病例均显示基因组改变。 CGH 检测到的改变的平均数量为 6（范围 1 - 15），表明遗传不稳定性处于中等水平。染色体缺失比扩增更常见。最显着的变化涉及 10 例（55%）9 号染色体缺失。这与其他上皮性卵巢癌的变化相关。使用微卫星标记来评估 9 号染色体上四个独立位点的杂合性丢失 (LOH)，证实了这种缺失。检测到的最明显的丢失区域是 9p21 的 IFNA 标记周围，LOH 率为 41%（27 例中有 11 例）。其他频繁删除涉及 1p（18 例中有 5 例；28%）； 11q（18 中的 4 个；22%）和 16（18 中的 5；28%）。扩增最常见于 3 号染色体（18 条染色体中有 6 条；33%）； 13q（18 中的 4 个；22%）和 15（18 中的 3；17%）。没有发现高水平的扩增。这些特征可以作为 OCCC 管理中有用的预后指标。
Ovarian clear cell carcinoma ( OCCC) accounts for a small but significant proportion of all ovarian cancers and is a distinct clinical and pathological entity. It tends to be associated with poorer response rates to chemotherapy and with a worse prognosis. Little is known about possible underlying genetic changes. DNA extracted from paraffin-embedded samples of 18 pure OCCC cases was analysed for genetic imbalances using comparative genomic hybridisation (CGH). All of the 18 cases showed genomic alterations. The mean number of alterations detected by CGH was 6 ( range 1 - 15) indicating a moderate level of genetic instability. Chromosome deletions were more common than amplifications. The most prominent change involved chromosome 9 deletions in 10 cases ( 55%). This correlates with changes seen in other epithelial ovarian cancers. This deletion was confirmed using microsatellite markers to assess loss of heterozygosity (LOH) at four separate loci on chromosome 9. The most distinct region of loss detected was around the IFNA marker at 9p21 with 41% ( 11 out of 27 cases) LOH. Other frequent deletions involved 1p ( five out of 18; 28%); 11q ( four out of 18; 22%) and 16 ( five out of 18; 28%). Amplification was most common at chromosome 3 ( six out of 18; 33%); 13q ( four out of 18; 22%) and 15 ( three out of 18; 17%). No high-level amplifications were identified. These features may serve as useful prognostic indicators in the management of OCCC.