Caserta Donatella, Benkhalifa Moncef, Baldi Marina, Fiorentino Francesco, Qumsiyeh Mazin, Moscarini Massimo
Oby/Gyn Dept, Saint Andrea Hospital, University of Roma La Sapienza, Rome, italy.
Mol Cytogenet. 2008 May 20;1:10. doi: 10.1186/1755-8166-1-10.
Routine cytogenetic investigations for ovarian cancers are limited by culture failure and poor growth of cancer cells compared to normal cells. Fluorescence in situ Hybridization (FISH) application or classical comparative genome hybridization techniques are also have their own limitations in detecting genome imbalance especially for small changes that are not known ahead of time and for which FISH probes could not be thus designed.
We applied microarray comparative genomic hybridization (A-CGH) using one mega base BAC arrays to investigate chromosomal disorders in ovarian adenocarcinoma in patients with familial history.
Our data on 10 cases of ovarian cancer revealed losses of 6q (4 cases mainly mosaic loss), 9p (4 cases), 10q (3 cases), 21q (3 cases), 22q (4 cases) with association to a monosomy X and gains of 8q and 9q (occurring together in 8 cases) and gain of 12p. There were other abnormalities such as loss of 17p that were noted in two profiles of the studied cases. Total or mosaic segmental gain of 2p, 3q, 4q, 7q and 13q were also observed. Seven of 10 patients were investigated by FISH to control array CGH results. The FISH data showed a concordance between the 2 methods.
The data suggest that A-CGH detects unique and common abnormalities with certain exceptions such as tetraploidy and balanced translocation, which may lead to understanding progression of genetic changes as well as aid in early diagnosis and have an impact on therapy and prognosis.
与正常细胞相比，卵巢癌的常规细胞遗传学研究受到癌细胞培养失败和生长不良的限制。荧光原位杂交（FISH）应用或经典的比较基因组杂交技术在检测基因组失衡方面也有其自身的局限性，特别是对于事先未知的小变化以及无法设计FISH探针的情况。
我们应用基于1兆碱基BAC阵列的微阵列比较基因组杂交（A-CGH）来研究有家族史的卵巢腺癌患者的染色体疾病。
我们对10例卵巢癌的数据显示，6q（4例主要为嵌合缺失）、9p（4例）、10q（3例）、21q（3例）、22q（4例）缺失，并与X单体相关，8q和9q增益（8例同时出现）以及12p增益。在所研究病例的两个图谱中还发现了其他异常，如17p缺失。还观察到2p、3q、4q、7q和13q的全段或嵌合性节段性增益。10名患者中的7名接受了FISH检测以验证阵列CGH结果。FISH数据显示两种方法结果一致。
数据表明，A-CGH能检测到独特和常见的异常，但四倍体和平衡易位等某些情况除外，这可能有助于理解遗传变化的进展，辅助早期诊断，并对治疗和预后产生影响。
