A paediatric patient with AML M1 and a t(11;19)(q23;p13.1) rearrangement

Abstract

The t(11;19)(q23;p13) translocation is found in a variety of haematological malignancies, but most are present as either acute lymphoblastic leukaemia (ALL) or acute myeloid leukaemia (AML) with an M4 or M5 subtype. The t(11;19)(q23;p13.1) translocation results in a MLL/ELL(MEN) chimeric fusion gene and has only been reported in AMLs to date, with the majority occurring in adults. Few paediatric t(11;19)(q23;p13.1) cases have been reported. We present the case of a ten year old patient with AML, WHO subtype AML without maturation (FAB classification M1), who was found to have a t(11;19)(q23;p13.1) translocation on conventional cytogenetics, and an 11q23 MLL gene rearrangement on FISH. Although molecular studies to confirm the MLL/ELL gene fusion were not performed, the paucity of information about paediatric cases, and the uncertain contribution of MLL/ELL to leukemogenesis, makes this case of clinical interest. Results and discussionCytogenetic G-banding showed a 46,XX,t(11;19)(q23;p13.1) karyotype in 25 cells at the patient's initial presentation (Figure 1); the translocation was detected in 19/20 metaphase cells at her second presentation.