Kabisch H, Scholz R B, Weber B, Heinsohn S, Budde-Steffen C, Landbeck G
Abteilung für pädiatrische Hämatologie und Onkologie, Universität Hamburg.
Klin Padiatr. 1990 Jul-Aug;202(4):240-2. doi: 10.1055/s-2007-1025527.
In a native osteosarcoma specimen of a patient cured of a bilateral retinoblastoma eight years before we found a homozygous deletion of a 7.5 kb Hind III-fragment within the retinoblastoma gene and a hemizygous deletion of the same fragment in its constitutional cells. In a native osteosarcoma tissue of a lung metastasis of a patient with sporadic osteosarcoma the Rb-gene-analysis did not reveal any deletion within the gene. This might be due to the fact that the used c-DNA-probe did not detect point mutations. Nevertheless, the possibility of additional or alternative transforming events should be kept in mind.
在一名八年前治愈双侧视网膜母细胞瘤的患者的原发性骨肉瘤标本中,我们发现视网膜母细胞瘤基因内一个7.5 kb Hind III片段的纯合缺失,以及其体细胞中同一片段的半合子缺失。在一名散发型骨肉瘤患者肺转移灶的原发性骨肉瘤组织中,Rb基因分析未发现该基因内有任何缺失。这可能是由于所用的c-DNA探针未检测到点突变。然而,应牢记存在其他或替代性转化事件的可能性。