Ejeskär K, Aburatani H, Abrahamsson J, Kogner P, Martinsson T
Department of Clinical Genetics, Gothenburg University, Sahlgrenska University Hospital/Ostra, Sweden.
Br J Cancer. 1998 Jun;77(11):1787-91. doi: 10.1038/bjc.1998.297.
Neuroblastoma is a heterogeneous childhood tumour of the sympathetic nervous system, in which deletions of chromosomal region 1p and amplification of the MYCN oncogene correlate with aggressive tumour behaviour. However, the majority of neuroblastoma tumours show neither of these aberrations, indicating that other chromosomal regions may be involved in tumorigenesis. Here, we report findings of loss of heterozygosity (LOH) on chromosome 3. In our neuroblastoma material, nine of 59 (15.3%) tested tumours showed allelic loss of chromosome 3p markers. We found significant clinical and biological differences between tumours with the loss of one entire chromosome 3 vs tumours with partial loss in chromosome region 3p. All children with tumours with whole chromosome 3 loss are long-term survivors, whereas all children with tumours showing partial 3p LOH have died from tumour progression. A consensus region found to be deleted in all the tumours with 3p deletions was defined by markers D3S1286 and D3S1295, i.e. 3p25.3-p14.3, distal to the FHIT gene.
神经母细胞瘤是一种发生于儿童期的交感神经系统异质性肿瘤,其中1p染色体区域缺失和MYCN癌基因扩增与侵袭性肿瘤行为相关。然而,大多数神经母细胞瘤肿瘤并未表现出这些异常,这表明其他染色体区域可能参与肿瘤发生。在此,我们报告了3号染色体杂合性缺失(LOH)的研究结果。在我们的神经母细胞瘤样本中,59个检测肿瘤中有9个(15.3%)显示3号染色体p臂标记的等位基因缺失。我们发现整条3号染色体缺失的肿瘤与3号染色体p区域部分缺失的肿瘤之间存在显著的临床和生物学差异。所有3号染色体完全缺失肿瘤的患儿均为长期存活者,而所有显示3p部分LOH肿瘤的患儿均因肿瘤进展而死亡。通过标记D3S1286和D3S1295确定了所有3p缺失肿瘤中均被删除的一个共有区域,即位于FHIT基因远端的3p25.3 - p14.3。