Takeuchi Seisho, Takeuchi Naoko, Tsukasaki Kunihiro, Fermin Anthony C, De Vas Sven, Seo Hiromi, Koeffler H Phillip
Department of Internal Medicine, Kochi Medical School, Okohcho, Nankoku, Kochi 783-8505, Japan.
Leuk Lymphoma. 2003 Apr;44(4):699-701. doi: 10.1080/1042819031000063480.
The retinoblastoma (Rb) family consists of the tumor suppressor Rb/p105 and related proteins p107 and Rb2/p130. Although the involvement of the RB/p105 gene in Adult T-cell leukaemia/lymphoma (ATL) has been studied, no mutational data is reported regarding the RB2/p130 gene in ATL. We screened for mutations of the RB2/p130 gene. Mutation was detected in 1 of 41 primary ATL sample. This is the first report describing mutation of the RB2/p130 gene in ATL, suggesting that RB2/p130 may be involved in the development of ATL, and may behave as a tumor suppressor gene in T lymphocytes.
视网膜母细胞瘤（Rb）家族由肿瘤抑制因子Rb/p105以及相关蛋白p107和Rb2/p130组成。尽管已经对RB/p105基因在成人T细胞白血病/淋巴瘤（ATL）中的作用进行了研究，但尚无关于ATL中RB2/p130基因的突变数据报道。我们对RB2/p130基因的突变进行了筛查。在41份原发性ATL样本中的1份中检测到了突变。这是首篇描述ATL中RB2/p130基因突变的报告，表明RB2/p130可能参与了ATL的发生发展，并且可能在T淋巴细胞中作为肿瘤抑制基因发挥作用。
