Issing W J, Wustrow T P, Oeckler R, Mezger J, Nerlich A
Department of Otorhinolaryngology, University of Munich, Klinikum Grosshadern, Germany.
Eur Arch Otorhinolaryngol. 1993;250(5):277-80. doi: 10.1007/BF00186225.
A 24-year-old male patient with hereditary retinoblastoma and a poorly differentiated osteoblastic osteogenic sarcoma was found to carry a mutant RB1 allele in all cells. This findings was most likely a point mutation or microdeletion because Southern blot analysis of peripheral blood DNA failed to disclose any structural aberration of the RB1 gene. A somatic mutation (deletion) affecting the other allele was found in the osteosarcoma cells. Management of tumor by external radiotherapy in early age is questioned because the effect of irradiation is to significantly increase the total incidence of second tumors above the already high incidence in non-irradiated patients.
一名患有遗传性视网膜母细胞瘤和低分化成骨性骨肉瘤的24岁男性患者被发现所有细胞中都携带一个突变的RB1等位基因。这一发现很可能是点突变或微缺失，因为外周血DNA的Southern印迹分析未能揭示RB1基因的任何结构畸变。在骨肉瘤细胞中发现了影响另一个等位基因的体细胞突变（缺失）。早期通过外部放疗治疗肿瘤受到质疑，因为放疗的作用是使二次肿瘤的总发病率在未接受放疗的患者本就很高的发病率基础上显著增加。
