Vandesompele J, Van Roy N, Van Gele M, Laureys G, Ambros P, Heimann P, Devalck C, Schuuring E, Brock P, Otten J, Gyselinck J, De Paepe A, Speleman F
Department of Medical Genetics, University Hospital, Gent, Belgium.
Genes Chromosomes Cancer. 1998 Oct;23(2):141-52. doi: 10.1002/(sici)1098-2264(199810)23:2<141::aid-gcc7>3.0.co;2-2.
Comparative genomic hybridization (CGH) analysis was performed on 36 neuroblastomas of both low and high stage of disease. This study significantly increases the number of neuroblastoma tumors studied by CGH. Analysis of larger series of tumors is particularly important in view of the different clinical subgroups that are recognized for this tumor. The present data and a comparison with all published CGH data on neuroblastoma provide further insights into the genetic heterogeneity of neuroblastoma. Stage 1, 2, and 4S tumors showed predominantly whole chromosome gains and losses. A similar pattern of whole chromosome imbalances, although less frequent, was observed in stage 3 and 4 tumors, in addition to partial chromosome gains and losses. An increase in chromosome 17 or 17q copy number was observed in 81% of tumors. The most frequent losses, either through partial or whole chromosome underrepresentation, were observed for 1p (25%), 3p (25%), 4p (14%), 9p (19%), 11q (28%), and 14q (31%). The presence of 3p, 11q or 14q deletions defines a genetic subset of neuroblastomas and contributes to the further genetic characterization of stage 3 and 4 tumors without MYCN amplification (MNA) and 1p deletion. The present study also provides additional evidence for a possible role of genes at 11q13 in neuroblastoma. In a few cases, 1p deletion or MNA detected by FISH or Southern blotting was not found by CGH, indicating that the use of a second, independent technique for evaluation of these genetic parameters is recommended.
对36例疾病分期有高有低的神经母细胞瘤进行了比较基因组杂交（CGH）分析。本研究显著增加了通过CGH研究的神经母细胞瘤肿瘤数量。鉴于该肿瘤存在不同的临床亚组，分析更多系列的肿瘤尤为重要。目前的数据以及与所有已发表的神经母细胞瘤CGH数据的比较，为神经母细胞瘤的遗传异质性提供了进一步的见解。1期、2期和4S期肿瘤主要表现为整条染色体的增加和缺失。在3期和4期肿瘤中，除了部分染色体的增加和缺失外，也观察到了类似的整条染色体失衡模式，不过频率较低。81%的肿瘤中观察到17号染色体或17q拷贝数增加。最常见的缺失情况，无论是部分染色体还是整条染色体的代表性不足，见于1p（25%）、3p（25%）、4p（14%）、9p（19%）、11q（28%）和14q（31%）。3p、11q或14q缺失的存在定义了神经母细胞瘤的一个遗传亚组，并有助于对无MYCN扩增（MNA）和1p缺失的3期和4期肿瘤进行进一步的遗传特征分析。本研究还为11q13基因在神经母细胞瘤中可能发挥的作用提供了额外证据。在少数情况下，CGH未发现通过荧光原位杂交（FISH）或Southern印迹检测到的1p缺失或MNA，这表明建议使用第二种独立技术来评估这些遗传参数。
