Manhani R, Cristofani L M, Odone Filho V, Bendit I
Research and Molecular Biology Division, Pró-Sangue Hemocentro de São Paulo Foundation, Brazil.
Med Pediatr Oncol. 1997 Sep;29(3):206-7. doi: 10.1002/(sici)1096-911x(199709)29:3<206::aid-mpo7>3.0.co;2-h.
The MYCN oncogene is amplified in 20% of childhood neuroblastoma and is associated independently with poor prognosis. Alteration of the p53 tumor supressor gene, in contrast, occurs infrequently in these tumors. In this report, we described a 3-year-old girl with stage IV neuroblastoma. Molecular analysis revealed, both MYCN gene amplification and a point mutation of the p53 tumor supressor gene. To our knowledge, this is the first reported case of neuroblastoma with genetic alterations of both these genes.
MYCN癌基因在20%的儿童神经母细胞瘤中发生扩增，并独立与预后不良相关。相比之下，p53肿瘤抑制基因的改变在这些肿瘤中很少发生。在本报告中，我们描述了一名患有IV期神经母细胞瘤的3岁女孩。分子分析显示，既有MYCN基因扩增，又有p53肿瘤抑制基因的点突变。据我们所知，这是首例报道的同时具有这两种基因遗传改变的神经母细胞瘤病例。
