Scheffer H, Kruize Y C, Osinga J, Kuiken G, Oosterhuis J W, Leeuw J A, Schraffordt Koops H, Buys C H
Department of Medical Genetics, University of Groningen, The Netherlands.
Cancer Genet Cytogenet. 1991 May;53(1):45-55. doi: 10.1016/0165-4608(91)90113-9.
Mutations of the retinoblastoma (RB1) gene are not confined to retinoblastoma, but are also involved in the development of osteosarcoma. Structural aberrations within the RB1 gene have been studied in fresh samples of eleven cases of osteosarcoma. In five cases a rearrangement was detected, one of which was best explained as a partial duplication. The chromosomal mechanisms by which the nonmutated RB1 allele was lost appeared to be similar in frequency to those that have been reported for retinoblastoma. Loss of heterozygosity was observed for chromosomes 3, 11, 13, 17, and 22. However, when no loss of heterozygosity of chromosome 13 was detected, the other chromosomes retained their heterozygosity as well. A complete association of loss of heterozygosity of chromosomes 13 and 17 was observed. This can be taken as an indication of the involvement of another tumor suppressor gene at chromosome 17 in the initiation of osteosarcoma.
视网膜母细胞瘤（RB1）基因的突变并不局限于视网膜母细胞瘤，还与骨肉瘤的发生发展有关。在11例骨肉瘤新鲜样本中研究了RB1基因的结构畸变。在5例中检测到重排，其中1例最好解释为部分重复。未突变的RB1等位基因丢失的染色体机制在频率上似乎与视网膜母细胞瘤所报道的相似。在3号、11号、13号、17号和22号染色体上观察到杂合性缺失。然而，当未检测到13号染色体杂合性缺失时，其他染色体也保留了它们的杂合性。观察到13号和17号染色体杂合性缺失完全相关。这可被视为17号染色体上另一个肿瘤抑制基因参与骨肉瘤起始的一个迹象。
