A genomic and transcriptomic approach for a differential diagnosis between primary and secondary ovarian carcinomas in patients with a previous history of breast cancer.
A genomic and transcriptomic approach for a differential diagnosis between primary and secondary ovarian carcinomas in patients with a previous history of breast cancer.
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DOI：
10.1186/1471-2407-10-222
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发表时间：
2010-05-21
期刊：
影响因子：
3.8
通讯作者：
Sastre-Garau, Xavier
中科院分区：
文献类型：
--
作者：
Meyniel, Jean-Philippe;Cottu, Paul H;Sastre-Garau, Xavier
背景：原发性和继发性卵巢肿瘤之间的区别可能是具有挑战性的病理学家。本工作的目的是开发基因组和转录组学工具，以进一步完善卵巢肿瘤的病理诊断后，以前的历史乳腺cancer.METHODS：16对乳腺卵巢肿瘤的患者与以前的诊断乳腺癌进行了收集。使用Affytek GeneChip Mapping 50 K Xba Array或全基因组人类SNP Array 6.0（对于一对）分析配对肿瘤的基因组谱，并分别用ITALICS（Affytek Snp阵列的迭代和替代标准化和拷贝数调用）算法或Partek Genomic Suite标准化数据。配对样本的转录组使用Affyscore GeneChip Human Genome U133 Plus 2.0 Arrays进行分析，并使用gc-Robust Multi-array Average（gcRMA）算法对数据进行归一化。一个层次聚类的这些样本进行，结合一个数据集的良好识别的原发性和继发性卵巢tumors.RESULTS：在12的16对肿瘤分析，基因组图谱的比较证实了原发性卵巢肿瘤（n = 5）或乳腺癌转移（n = 7）的病理诊断。在4例病理诊断不确定的病例中，两对卵巢肿瘤和乳腺肿瘤的基因组图谱明显不同，因此表明原发性卵巢癌，并在另外两个病例中显示出共同的模式，表明乳腺癌转移。在所有对中，转录组学分析的结果是一致的，与基因组analysis.CONCLUSIONS：在卵巢癌和乳腺癌的既往病史的患者，SNP阵列分析可以用来区分原发性和继发性卵巢肿瘤。当原发性乳腺组织标本不可用时，可使用转录组学分析。
BACKGROUND: The distinction between primary and secondary ovarian tumors may be challenging for pathologists. The purpose of the present work was to develop genomic and transcriptomic tools to further refine the pathological diagnosis of ovarian tumors after a previous history of breast cancer.METHODS: Sixteen paired breast-ovary tumors from patients with a former diagnosis of breast cancer were collected. The genomic profiles of paired tumors were analyzed using the Affymetrix GeneChip Mapping 50 K Xba Array or Genome-Wide Human SNP Array 6.0 (for one pair), and the data were normalized with ITALICS (ITerative and Alternative normaLIzation and Copy number calling for affymetrix Snp arrays) algorithm or Partek Genomic Suite, respectively. The transcriptome of paired samples was analyzed using Affymetrix GeneChip Human Genome U133 Plus 2.0 Arrays, and the data were normalized with gc-Robust Multi-array Average (gcRMA) algorithm. A hierarchical clustering of these samples was performed, combined with a dataset of well-identified primary and secondary ovarian tumors.RESULTS: In 12 of the 16 paired tumors analyzed, the comparison of genomic profiles confirmed the pathological diagnosis of primary ovarian tumor (n = 5) or metastasis of breast cancer (n = 7). Among four cases with uncertain pathological diagnosis, genomic profiles were clearly distinct between the ovarian and breast tumors in two pairs, thus indicating primary ovarian carcinomas, and showed common patterns in the two others, indicating metastases from breast cancer. In all pairs, the result of the transcriptomic analysis was concordant with that of the genomic analysis.CONCLUSIONS: In patients with ovarian carcinoma and a previous history of breast cancer, SNP array analysis can be used to distinguish primary and secondary ovarian tumors. Transcriptomic analysis may be used when primary breast tissue specimen is not available.