Identification of FOXP1 and SNX2 as novel ABL1 fusion partners in acute lymphoblastic leukaemia

Thomas Ernst (1) , Joannah Score (2) , Claire Hidalgo-Curtis (2) , Michael Wn Deininger (3) , Peter M Lackie (4) , William B Ershler (5) , John M Goldman (6) , Nicholas C.P. Cross (2) , Francis Hector Grand (2)

1 Klinik für Innere Medizin II
2 Salisbury District Hospital
3 Hematology
4 Infection Inflammation and Immunity
5 Hematology/Immunology Unit
6 Haematology

We have identified two novel ABL1 fusion genes in two patients with B-cell acute lymphoblastic leukaemia 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 (RT-PCR). 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.

Mots clés: Medicine

Thomas Ernst, Joannah Score, Claire Hidalgo-Curtis, Michael Wn Deininger, Peter M Lackie, et al.. Identification of FOXP1 and SNX2 as novel ABL1 fusion partners in acute lymphoblastic leukaemia. British Journal of Haematology, 2011, 153 (1), pp.43. ⟨10.1111/j.1365-2141.2010.08457.x⟩. ⟨hal-00612830⟩