Araki N, Uchida A, Kimura T, Yoshikawa H, Aoki Y, Ueda T, Takai S, Miki T, Ono K
Department of Orthopaedic Surgery, Osaka University Medical School, Japan.
Clin Orthop Relat Res. 1991 Sep(270):271-7.
The retinoblastoma (Rb) gene, thought by some to be associated with tumor formation of retinoblastoma as a recessive human oncogene, was investigated in 57 cases using DNA and RNA from primary osteosarcomas and other bone and soft-tissue tumors. Eight of 23 osteosarcoma cases (35%) showed structural alterations of the Rb gene. Three of the eight demonstrated homozygous deletions, and the remaining five cases showed heterozygous deletions. Seven out of eight cases represented deletion of a 7.5-kb HindIII fragment. Northern blot analysis of five cases of osteosarcoma showed that four demonstrated no detectable Rb gene transcription, and one case had a truncated 3.5-kb fragment with a faint 4.7-kb band. In the other 34 cases of bone and soft-tissue tumors, two cases of three malignant fibrous histiocytomas showed an Rb gene abnormality by Southern blot analysis. These results strongly suggest that Rb gene alteration is pertinent to the tumorigenesis of most osteosarcoma cases and some other bone and soft-tissue tumors.
视网膜母细胞瘤（Rb）基因，有些人认为它作为一种隐性人类癌基因与视网膜母细胞瘤的肿瘤形成有关，本研究使用原发性骨肉瘤以及其他骨和软组织肿瘤的DNA和RNA，对57例病例进行了调查。23例骨肉瘤病例中有8例（35%）显示出Rb基因的结构改变。8例中的3例表现为纯合缺失，其余5例表现为杂合缺失。8例中有7例表现为7.5kb HindIII片段的缺失。对5例骨肉瘤病例进行的Northern印迹分析表明，4例未检测到Rb基因转录，1例有一个截短的3.5kb片段以及一条微弱的4.7kb条带。在其他34例骨和软组织肿瘤中，3例恶性纤维组织细胞瘤中有2例通过Southern印迹分析显示出Rb基因异常。这些结果强烈表明，Rb基因改变与大多数骨肉瘤病例以及一些其他骨和软组织肿瘤的肿瘤发生有关。
