Santos Joana, Cerveira Nuno, Correia Cecília, Lisboa Susana, Pinheiro Manuela, Torres Lurdes, Bizarro Susana, Vieira Joana, Viterbo Luisa, Mariz José M, Teixeira Manuel R
Department of Genetics, Portuguese Oncology Institute, Rua Dr. António Bernardino de Almeida, Porto, Portugal.
Cancer Genet Cytogenet. 2010 Feb;197(1):60-4. doi: 10.1016/j.cancergencyto.2009.10.010.
We present the characterization at the RNA level of an acute myeloid leukemia with a t(11;17)(q23;q25) and a MLL rearrangement demonstrated by FISH. Molecular analysis led to the identification of two coexistent in-frame MLL-SEPT9 fusion transcripts (variants 1 and 2), presumably resulting from alternative splicing. Real-time quantitative RT-PCR analysis showed that the relative expression of the MLL-SEPT9 fusion variant 2 was 1.88 fold higher than the relative expression of MLL-SEPT9 fusion variant 1. This is the first description of a MLL-SEPT9 fusion resulting in coexistence of two alternative splicing variants, each of which previously found isolated in myeloid leukemias.
我们展示了通过荧光原位杂交（FISH）证实的伴有t(11;17)(q23;q25)和MLL重排的急性髓系白血病在RNA水平的特征。分子分析鉴定出两种共存的框内MLL-SEPT9融合转录本（变体1和变体2），推测是由可变剪接产生的。实时定量逆转录聚合酶链反应（RT-PCR）分析表明，MLL-SEPT9融合变体2的相对表达比MLL-SEPT9融合变体1的相对表达高1.88倍。这是首次描述MLL-SEPT9融合导致两种可变剪接变体共存，此前每种变体都在髓系白血病中单独发现。
