Meddeb M, Danglot G, Chudoba I, Vénuat A M, Bénard J, Avet-Loiseau H, Vasseur B, Le Paslier D, Terrier-Lacombe M J, Hartmann O, Bernheim A
Laboratoire de Cytogénétique et de Génétique Oncologiques, CNRS URA 1967, Villejuif, France.
Genes Chromosomes Cancer. 1996 Nov;17(3):156-65. doi: 10.1002/(SICI)1098-2264(199611)17:3<156::AID-GCC3>3.0.CO;2-3.
Neuroblastoma shows remarkable heterogeneity, ranging from spontaneous regression to progression toward highly malignant tumors. In search of genetic abnormalities that could explain this variability, we have characterized neuroblastoma tumors by using multiple fluorescent hybridizations. Our results indicate that chromosome 17 is rearranged very frequently in the form of unbalanced translocations with numerous chromosomal partners, all leading to the presence of supernumerary copies of a 25 Mb chromosomal region originating from 17q23.1-qter. Additional 17q material was detected in more than 90% of untreated high-grade neuroblastomas and, along with 1p36 deletion, should represent the most frequent genetic abnormality of neuroblastoma observed until now.
神经母细胞瘤表现出显著的异质性，范围从自发消退到向高度恶性肿瘤进展。为了寻找能够解释这种变异性的基因异常，我们通过使用多种荧光杂交技术对神经母细胞瘤肿瘤进行了特征描述。我们的结果表明，17号染色体非常频繁地以不平衡易位的形式与众多染色体伙伴发生重排，所有这些都导致了源自17q23.1-qter的一个25 Mb染色体区域的额外拷贝的存在。在超过90%未经治疗的高级别神经母细胞瘤中检测到了额外的17q物质，并且与1p36缺失一起，应该代表了迄今为止观察到的神经母细胞瘤最常见的基因异常。
