University of Southampton School of Medicine, Southampton, UK.
Br J Haematol. 2011 Apr;153(1):43-6. doi: 10.1111/j.1365-2141.2010.08457.x. Epub 2011 Feb 1.
We have identified two novel ABL1 fusion genes in two patients with B-cell acute lymphoblastic leukaemia (ALL) associated with a t(3;9)(p12;q34) and a t(5;9)(q23;q34), respectively. Molecular analysis revealed a FOXP1-ABL1 fusion for the t(3;9) and a SNX2-ABL1 fusion for the t(5;9). The fusions were confirmed by specific amplification of the genomic breakpoints using reverse transcription polymerase chain reaction. The identification of ALL with rare ABL1 fusion partners is important because the leukaemia may respond to tyrosine kinase inhibitors in the same way as ALL patients with a classical BCR-ABL1 fusion gene.
我们在两位 B 细胞急性淋巴细胞白血病(ALL)患者中分别发现了两个新型的 ABL1 融合基因,它们分别与 t(3;9)(p12;q34)和 t(5;9)(q23;q34)相关。分子分析显示 t(3;9)为 FOXP1-ABL1 融合,t(5;9)为 SNX2-ABL1 融合。通过使用逆转录聚合酶链反应特异性扩增基因组断点,证实了融合的存在。鉴定出具有罕见 ABL1 融合伴侣的 ALL 很重要,因为白血病可能会像具有经典 BCR-ABL1 融合基因的 ALL 患者一样,对酪氨酸激酶抑制剂产生反应。