Moss R B, Blessing-Moore J, Bender S W, Weibel A
Pediatrics. 1985 Nov;76(5):814-7.
Two cases of coexistent cystic fibrosis and infantile thoracic neuroblastoma are presented. In one patient, neuroblastoma was congenital, and diagnosis of cystic fibrosis was made at 3 months of age; in the other, the diagnosis of cystic fibrosis was made at 7 months of age, preceding that of neuroblastoma by 4 months. In both infants, surgical resection of the tumors have been successful. Recent advances in the genetic aspects of neuroblastoma, including translocation and activation of the oncogene N-myc, are discussed. Current recombinant DNA technology, which can identify translocation of N-myc and allow localization of the cystic fibrosis gene if the translocation occurs near the cystic fibrosis allele, is being applied to these cases.
本文报告了两例囊性纤维化与婴儿期胸段神经母细胞瘤并存的病例。其中一例患者,神经母细胞瘤为先天性,囊性纤维化于3个月大时确诊;另一例患者,囊性纤维化于7个月大时确诊,比神经母细胞瘤早4个月。两名婴儿的肿瘤均成功进行了手术切除。文中讨论了神经母细胞瘤遗传学方面的最新进展,包括癌基因N-myc的易位和激活。目前的重组DNA技术,可识别N-myc的易位,并在易位发生在囊性纤维化等位基因附近时定位囊性纤维化基因,现正应用于这些病例。