FGFR3 的 t(4;14) 易位
中文名称
通路描述
将 FGFR3 基因置于强 IGH 启动子控制下的易位已在 15% 的多发性骨髓瘤中被发现 (Avet-Loiseau, 1998; Chesi, 1997; Chesi, 2001)。该易位发生在 FGFR3 基因上游 70kb 处，还涉及附近的 MMSET 基因 (Lauring, 2008)，尽管每种基因对癌症发展的贡献尚未完全阐明，但几项研究表明 t(4:14) 骨髓瘤细胞线对 FGFR3 抑制剂敏感 (Trudel, 2006; Qing, 2009)。在约 5% 的情况下，易位伴随 FGFR3 激活突变 (Onwuazor, 2003; Ronchetti, 2001)。t(4;14) 易位导致 FGFR3 过表达，随后是配体独立或异常配体依赖性信号传导 (Otsuki, 1999)。
英文描述
t(4;14) translocations of FGFR3 Translocations which put the FGFR3 gene under the control of the strong IGH promoter have been identified in 15% of multiple myelomas (Avet-Loiseau, 1998; Chesi, 1997; Chesi, 2001). This translocation, which occurs 70kb upstream of the FGFR3 gene, also involves the nearby multiple myeloma SET-domain containing (MMSET) gene (Lauring, 2008), and although the contribution of each of these genes to the development of cancer has not been fully elucidated, several studies have shown that t(4:14) myeloma cell lines are sensitive to FGFR3 inhibitors (Trudel, 2006; Qing, 2009). In ~5% of cases, the translocation is accompanied by activating mutations of FGFR3 (Onwuazor, 2003; Ronchetti, 2001). The t(4;14) translocation results in overexpression of FGFR3 and subsequent ligand independent or anomalous ligand-dependent signaling (Otsuki, 1999).
所含基因
1 个基因