Lastowska M, Roberts P, Pearson A D, Lewis I, Wolstenholme J, Bown N
Department of Human Genetics, University of Newcastle upon Tyne, U.K.
Genes Chromosomes Cancer. 1997 Jul;19(3):143-9.
Deletions of chromosome arm 1p and amplification of the MYCN oncogene are well-recognized genetic changes in neuroblastoma cells. Technical difficulties in cytogenetic analysis of this tumour have hampered the recognition of other recurring abnormalities, but recent use of molecular cytogenetic techniques has indicated significant involvement of chromosome arm 17q. In primary tumours and in cell lines, a recurrent unbalanced translocation t(1p;17q) has been identified by fluorescence in situ hybridization. We confirm the occurrence of this translocation in primary tumours and, in addition, we describe seven new structural rearrangements all of which result in gain of 17q in tumour cells. These rearrangements involved chromosome arms 9p, 10q, 11p, 14q, and 16q. Triplication of the 17q arm was seen in one case. The 17q breakpoint was most commonly q21. All these 17q changes were found in near-diploid tumours. We have also reviewed the literature for neuroblastoma karyotypes involving 17q abnormalities; taken in conjunction with our findings this indicates a remarkable promiscuity of translocation partners, with more than 20 different chromosome regions involved in 17q translocations.
染色体1p臂缺失和MYCN癌基因扩增是神经母细胞瘤细胞中公认的基因变化。该肿瘤细胞遗传学分析中的技术难题阻碍了对其他复发性异常的识别，但最近分子细胞遗传学技术的应用表明染色体17q臂有显著受累。在原发性肿瘤和细胞系中，通过荧光原位杂交已鉴定出一种复发性不平衡易位t(1p;17q)。我们证实了这种易位在原发性肿瘤中的发生，此外，我们还描述了7种新的结构重排，所有这些重排均导致肿瘤细胞中17q增加。这些重排涉及染色体臂9p、10q、11p、14q和16q。1例中可见17q臂三倍体。17q断点最常见于q21。所有这些17q变化均在近二倍体肿瘤中发现。我们还查阅了涉及17q异常的神经母细胞瘤核型的文献；结合我们的研究结果，这表明易位伙伴存在显著的混杂性，超过20个不同的染色体区域参与了17q易位。
