Reciprocal ATP5L–KMT2A gene fusion in a paediatric B lymphoblastic leukaemia/lymphoma (B‐ALL) patient
Abstract
Gene rearrangements involving the histone lysine methyltransferase 2A gene (KMT2A) are identified in 4–7% of childhood acute lymphoblastic leukaemias (ALL). The rearrangement is associated with a poor prognosis, presentation in infancy and lymphoblasts lacking CD10 with expression of myeloid markers. KMT2A fusions are promiscuous with 135 different transfusion partner genes (TPGs) reported. The vast majority fuse the 50 end of KMT2A in-frame to a TPG at the 30 end. However, reciprocal translocations (TPG–KMT2A) are also found either in association with KMT2A–TPG fusions or rarely, in some instances, by themselves without a corresponding KMT2A–TPG fusion. Here, we describe an isolated ATP5L–KMT2A reciprocal fusion in a 15-month-old male with B lymphoblastic leukaemia/lymphoma (B-ALL). The University Hospitals Cleveland Medical Center/Case Western Reserve University’s Institutional Review Board granted approval for the study under number #02-14-36. The patient presented at 14 months in Kuwait with refusal to walk, malaise and fevers. A complete blood count demonstrated: white blood cells 22 4 9 10/l, haemoglobin 75 g/l, platelets 24 9 10/l. A bone marrow work-up revealed 91 5% blasts. Phenotypically, the cells were CD10 , CD19, CD20 , CD34, CD45, TdT (partial) and MPO consistent with B-ALL. Genetic studies showed a normal karyotype and fluorescent in situ hybridization (FISH) was negative for t(12;21) (p13;q22), t(9;22)(q34;q11), t(1;19)(q23;p13 3) and KMT2A (11q23)…
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