Tonini G P, Lo Cunsolo C, Cusano R, Iolascon A, Dagnino M, Conte M, Milanaccio C, De Bernardi B, Mazzocco K, Scaruffi P
Unit of Solid Tumour Biology, G. Gaslini Institute/Advanced Biotechnology Centre, Genoa, Italy.
Eur J Cancer. 1997 Oct;33(12):1953-6. doi: 10.1016/s0959-8049(97)00288-8.
Loss of heterozygosity (LOH) and deletion of chromosome 1p are very often found in sporadic neuroblastoma. Nevertheless, very few data are available concerning 1p LOH in familial neuroblastoma. Families with recurrent neuroblastoma are rare and analysis of chromosome 1p in these families might give useful information for identifying the putative neuroblastoma suppressor gene. We used combined cytogenetic and molecular techniques to study 1p LOH in two neuroblastoma families. Family M has 2 out of 3 children with neuroblastoma and family C has 2 children, 1 of whom has neuroblastoma and type 1 neurofibromatosis (NF1). All patients of both families showed tumour cells with chromosome 1p deletion (1pdel), but only the patient from family C also had MYCN gene amplification. In all cases the deleted chromosome 1 was of maternal origin.
杂合性缺失（LOH）和1p染色体缺失在散发性神经母细胞瘤中很常见。然而，关于家族性神经母细胞瘤中1p LOH的数据却非常少。复发性神经母细胞瘤的家族很罕见，对这些家族的1p染色体进行分析可能会为鉴定假定的神经母细胞瘤抑制基因提供有用信息。我们使用细胞遗传学和分子技术相结合的方法，对两个神经母细胞瘤家族的1p LOH进行了研究。家族M的3个孩子中有2个患有神经母细胞瘤，家族C有2个孩子，其中1个患有神经母细胞瘤和1型神经纤维瘤病（NF1）。两个家族的所有患者肿瘤细胞均显示有1p染色体缺失（1pdel），但只有家族C的患者同时存在MYCN基因扩增。在所有病例中，缺失的1号染色体均来自母亲。
