Author/Authors :
Santos، نويسنده , , Joana and Cerveira، نويسنده , , Nuno and Correia، نويسنده , , Cecيlia and Lisboa، نويسنده , , Susana and Pinheiro، نويسنده , , Manuela and Torres، نويسنده , , Lurdes and Bizarro، نويسنده , , Susana and Vieira، نويسنده , , Joana and Viterbo، نويسنده , , Luisa and Mariz، نويسنده , , José M. and Teixeira، نويسنده , , Manuel R.، نويسنده ,
Abstract :
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.
