Bourdeaut Franck, Grison Camille, Maurage Claude-Alain, Laquerriere Annie, Vasiljevic Alexandre, Delisle Marie-Bernadette, Michalak Sophie, Figarella-Branger Dominique, Doz François, Richer Wilfrid, Pierron Gaelle, Miquel Catherine, Delattre Olivier, Couturier Jérôme
INSERM U830, Laboratory of Genetics and Biology of Cancers, Curie Institute, Paris, France.
Cancer Genet. 2013 Apr;206(4):124-9. doi: 10.1016/j.cancergen.2013.02.003. Epub 2013 Apr 8.
As prognostic factors, MYC and MYCN amplifications are routinely assessed in medulloblastomas. Fluorescence in situ hybridization (FISH) is currently considered as the technique of reference. Recently, array comparative genomic hybridization (aCGH) has been developed as an alternative technique to evaluate genomic abnormalities in other tumor types; however, this technique has not been widely adopted as a replacement for FISH in medulloblastoma. In this study, 34 tumors were screened by both FISH and aCGH. In all cases showing amplification by FISH, aCGH also unambiguously revealed the abnormality. The aCGH technique was also performed on tumors showing no amplification by FISH, and the absence of amplification was confirmed in all cases. Interestingly, one tumor showed a subclonal MYC amplification by FISH. This subclonal amplification was observed in approximately 20% of tumor cells and was clearly evident on aCGH. In conclusion, our analysis confirms that aCGH is as safe as FISH for the detection of MYC/MYCN gene amplification. Given its cost efficiency in comparison to two FISH tests and the global genomic information additionally provided by an aCGH experiment, this reproducible technique can be safely retained as an alternative to FISH for routine investigation of medulloblastoma.
作为预后因素,髓母细胞瘤通常会评估MYC和MYCN基因扩增情况。荧光原位杂交(FISH)目前被视为参考技术。最近,阵列比较基因组杂交(aCGH)已被开发出来,作为评估其他肿瘤类型基因组异常的替代技术;然而,该技术尚未在髓母细胞瘤中广泛用作FISH的替代方法。在本研究中,对34个肿瘤进行了FISH和aCGH检测。在所有FISH检测显示扩增的病例中,aCGH也明确揭示了该异常。对FISH检测未显示扩增的肿瘤也进行了aCGH检测,所有病例均证实无扩增。有趣的是,一个肿瘤通过FISH检测显示出亚克隆性MYC扩增。这种亚克隆扩增在约20%的肿瘤细胞中观察到,在aCGH上清晰可见。总之,我们的分析证实,在检测MYC/MYCN基因扩增方面,aCGH与FISH一样可靠。鉴于与两次FISH检测相比其成本效益,以及aCGH实验额外提供的全基因组信息,这种可重复的技术可安全地作为FISH的替代方法,用于髓母细胞瘤的常规检测。