D'Amico D, Carbone D, Mitsudomi T, Nau M, Fedorko J, Russell E, Johnson B, Buchhagen D, Bodner S, Phelps R
NCI-Navy Medical Oncology Branch, National Naval Medical Center, Bethesda, Maryland.
Oncogene. 1992 Feb;7(2):339-46.
We analysed the p53 open reading frame (ORF) in 16 small-cell lung cancer (SCLC) cell lines by direct sequencing of cDNA/PCR products and in 20 SCLC tumors by chemical cleavage and single-strand conformation polymorphism analyses of genomic DNA/PCR products. Abnormalities of p53 were found in 16/16 cell lines (100%) and in 16/20 tumors (80%). In the SCLC cell lines, mutations (59% missense, 18% nonsense and 23% splicing) changing the coding sequence were dispersed between amino acids 68 and 342. In the tumor samples, while the mutations occurred predominantly in exons 5-8, other mutations were located outside these regions. G to T transversions were common, occurring in 32% of the cases. We found no p53 mutations in the corresponding normal tissue from 19 patients whose tumors had p53 lesions, indicating that the mutations were all somatically acquired. In analysing the clinical data of the patients we found no correlation between tumor response to therapy or survival and the location or type of mutations. We conclude from these data that: (1) p53 mutations are found in SCLC with high frequency; (2) p53 mutations in a significant fraction of cases generate cDNAs with nonsense or splicing mutations; and (3) to date, these mutations have all been somatically acquired events.
我们通过对cDNA/PCR产物进行直接测序,分析了16个小细胞肺癌(SCLC)细胞系中的p53开放阅读框(ORF),并通过对基因组DNA/PCR产物进行化学切割和单链构象多态性分析,分析了20个SCLC肿瘤中的p53开放阅读框。在16/16个细胞系(100%)和16/20个肿瘤(80%)中发现了p53异常。在SCLC细胞系中,改变编码序列的突变(59%错义突变、18%无义突变和23%剪接突变)分布在氨基酸68至342之间。在肿瘤样本中,虽然突变主要发生在外显子5 - 8中,但其他突变位于这些区域之外。G到T的颠换很常见,在32%的病例中出现。我们在19例肿瘤有p53病变的患者的相应正常组织中未发现p53突变,这表明这些突变都是体细胞获得性的。在分析患者的临床数据时,我们发现肿瘤对治疗的反应或生存率与突变的位置或类型之间没有相关性。我们从这些数据中得出以下结论:(1)p53突变在SCLC中高频出现;(2)在相当一部分病例中,p53突变产生有无义或剪接突变的cDNA;(3)迄今为止,这些突变都是体细胞获得性事件。