Lee J S, Ro J S, Eisbruch A, Shtalrid M, Ferrell R E, Gutterman J U, Blick M
Department of Medical Oncology, University of Texas M. D. Anderson Hospital and Tumor Institute, Houston 77030.
Cancer Res. 1988 Jul 15;48(14):4045-8.
We have examined the epidermal growth factor (EGF) receptor gene for structural alterations in fresh human tumors. DNA samples from 92 patients with solid tumors (lung cancer, 37; breast cancer, 24; head and neck cancer, 17; other tumors, 14) were analyzed and compared with those from 22 leukemia patients and 14 individuals without malignant neoplasms. When DNA samples were digested with HindIII restriction endonuclease, Southern blot analysis demonstrated 3 distinct polymorphic bands (9.8, 11, and 12 kilobases) after hybridization to the HER-A64-1 probe and another 2 distinct polymorphic bands (4.9 and 5.2 kilobases) after hybridization to the HER-A64-3 probe. Pedigree analysis of 43 members of a single family and comparative analysis of tumor and normal DNA samples from the same patients demonstrated that the variations in fragment size observed were due to 2 independent restriction fragment length polymorphisms in the region of the EGF receptor gene. Amplification of the EGF receptor gene was detected in 3 cases of breast cancer, but not in other tumors studied. We conclude that the human EGF receptor gene has multiple restriction fragment length polymorphisms and that in fresh human tumor samples rearrangement and amplification of the gene occur infrequently, if ever, within the region encompassed by the 2 complementary DNA probes used.
我们检测了新鲜人肿瘤中表皮生长因子（EGF）受体基因的结构改变。分析了92例实体瘤患者（肺癌37例；乳腺癌24例；头颈癌17例；其他肿瘤14例）的DNA样本，并与22例白血病患者及14例无恶性肿瘤个体的样本进行比较。用HindIII限制性内切酶消化DNA样本后，Southern印迹分析显示，与HER-A64-1探针杂交后出现3条不同的多态性条带（9.8、11和12千碱基），与HER-A64-3探针杂交后出现另外2条不同的多态性条带（4.9和5.2千碱基）。对一个家族的43名成员进行系谱分析以及对同一患者的肿瘤和正常DNA样本进行比较分析表明，观察到的片段大小变化是由于EGF受体基因区域存在2个独立的限制性片段长度多态性。在3例乳腺癌中检测到EGF受体基因扩增，但在所研究的其他肿瘤中未检测到。我们得出结论，人EGF受体基因具有多个限制性片段长度多态性，并且在新鲜人肿瘤样本中，在所使用的2个互补DNA探针所涵盖的区域内，该基因的重排和扩增即使发生也很少见。
