Dent J, Hall G D, Wilkinson N, Perren T J, Richmond I, Markham A F, Murphy H, Bell S M
Cancer Research UK Clinical Cancer Centre in Leeds, St James's University Hospital, Leeds LS9 7TF, UK.
Br J Cancer. 2003 May 19;88(10):1578-83. doi: 10.1038/sj.bjc.6600896.
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.
卵巢透明细胞癌（OCCC）在所有卵巢癌中所占比例虽小但意义重大，是一种独特的临床和病理实体。它往往与化疗反应率较低以及预后较差相关。对于可能的潜在基因变化知之甚少。使用比较基因组杂交（CGH）分析了从18例纯OCCC病例的石蜡包埋样本中提取的DNA的基因失衡情况。18例病例均显示出基因组改变。CGH检测到的改变平均数为6（范围为1 - 15），表明基因不稳定程度中等。染色体缺失比扩增更常见。最显著的变化是10例（55%）出现9号染色体缺失。这与其他上皮性卵巢癌中所见的变化相关。使用微卫星标记评估9号染色体上四个不同位点的杂合性缺失（LOH）来证实这种缺失。检测到的最明显缺失区域位于9p21的IFNA标记周围，有41%（27例中的11例）出现LOH。其他常见缺失涉及1p（18例中的5例；28%）；11q（18例中的4例；22%）和16（18例中的5例；28%）。扩增最常见于3号染色体（18例中的6例；33%）；13q（18例中的4例；22%）和15号染色体（18例中的3例；17%）。未发现高水平扩增。这些特征可能在OCCC的管理中作为有用的预后指标。
