In vivo amplification of the PAX3-FKHR and PAX7-FKHR fusion genes in alveolar rhabdomyosarcoma
In vivo amplification of the PAX3-FKHR and PAX7-FKHR fusion genes in alveolar rhabdomyosarcoma
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DOI：
10.1093/hmg/5.1.15
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发表时间：
1996-01-01
影响因子：
3.5
通讯作者：
Biegel, JA
中科院分区：
文献类型：
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作者：
Barr, FG;Nauta, LE;Biegel, JA
在儿童癌症肺泡横纹肌肉瘤中，特征性的t(2;13)（q35;q14）或变异的t(1;13)（p36;q14）染色体易位产生PAX3-FKHR或PAX7-FKHR融合基因。利用荧光原位杂交、逆转录聚合酶链反应和定量Southern blot分析，我们证明这些融合基因在20%的融合阳性肿瘤中被扩增。特别是，我们在22例pax3 - fkhr阳性病例中的1例和7例pax7 - fkhr阳性病例中的5例中发现了这些融合体的体内扩增。这些发现表明，易位和扩增可以在癌症中依次发生，从而改变基因的结构和拷贝数，从而通过互补机制激活致癌活性。
In the pediatric cancer alveolar rhabdomyosarcoma, characteristic t(2;13)(q35;q14) or variant t(1;13)(p36;q14) chromosomal translocations generate PAX3-FKHR or PAX7-FKHR fusion genes. Using fluorescence in situ hybridization, reverse transcriptase-polymerase chain reaction and quantitative Southern blot analyses, we demonstrate that these fusion genes are amplified in 20% of fusion-positive tumors. In particular, we found in vivo amplification of these fusions in one of 22 PAX3-FKHR-positive cases and five of seven PAX7-FKHR-positive cases. These findings indicate that translocation and amplification can occur sequentially in a cancer to alter both the structure and copy number of a gene and thereby activate oncogenic activity by complementary mechanisms.