Mairal A, Pinglier E, Gilbert E, Peter M, Validire P, Desjardins L, Doz F, Aurias A, Couturier J
INSERM U509 Pathologie Moléculaire des Cancers, Institut Curie, Section de Recherche, Paris, France.
Genes Chromosomes Cancer. 2000 Aug;28(4):370-9.
We have studied a series of 20 primary retinoblastomas by karyotypic analysis and comparative genomic hybridization (CGH), to perform an exhaustive evaluation of chromosome imbalances in this tumor. In addition, 4 tumors were studied by CGH only. On the whole, CGH results were largely in agreement with those of karyotypic analysis and with known cytogenetic data. The most frequent imbalances were +6p (13/24 cases), +1q (12/24), -16/-16q (11/24), and +2p (9/24). Recurrent high-level amplifications were observed in 2p23-25 and 1q21. Amplification of 2p23-25, present in 4 cases among which 3 showed double-minute chromosomes, was related to MYCN amplification, as demonstrated by FISH and PCR. No evident correlation was found in this small series between any of the imbalances identified and either the differentiation or the histoprognostic risk.
我们通过核型分析和比较基因组杂交（CGH）研究了一系列20例原发性视网膜母细胞瘤，以全面评估该肿瘤中的染色体失衡情况。此外，仅通过CGH研究了4例肿瘤。总体而言，CGH结果与核型分析结果以及已知的细胞遗传学数据基本一致。最常见的失衡为+6p（13/24例）、+1q（12/24）、-16/-16q（11/24）和+2p（9/24）。在2p23-25和1q21观察到反复出现的高水平扩增。2p23-25的扩增存在于4例病例中，其中3例显示双微体染色体，如荧光原位杂交（FISH）和聚合酶链反应（PCR）所示，其与MYCN扩增相关。在这个小系列中，未发现所鉴定的任何失衡与分化或组织预后风险之间存在明显相关性。
