一名双眼视网膜母细胞瘤已治愈患者的原发性骨肉瘤标本中，视网膜母细胞瘤基因存在纯合缺失。
Homozygous deletion within the retinoblastoma gene in a native osteosarcoma specimen of a patient cured of a retinoblastoma of both eyes.
作者信息
Scholz R B, Kabisch H, Delling G, Winkler K
机构信息
Department of Hematology and Oncology, Universitäts-Kinderklinik Hamburg, Federal Republic of Germany.
出版信息
Pediatr Hematol Oncol. 1990;7(3):265-73. doi: 10.3109/08880019009033402.
In a native osteosarcoma specimen from a patient cured of bilateral retinoblastoma eight years ago, we found a deletion of a 7.5 kb HindIII fragment within the retinoblastoma gene. Our results contribute further evidence that the 7.5 kb fragment harbors a Breakpoint Cluster Region (BCR) in osteosarcoma. In tumor tissue of another osteosarcoma patient the retinoblastoma gene did not reveal any defect on DNA or mRNA level, suggesting different transforming events in this patient.
在一名8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的HindIII片段缺失。我们的结果进一步证明，在骨肉瘤中，这个7.5 kb的片段包含一个断点簇区域（BCR）。在另一名骨肉瘤患者的肿瘤组织中，视网膜母细胞瘤基因在DNA或mRNA水平上未显示任何缺陷，这表明该患者存在不同的转化事件。
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