ArgBP2, encoding a negative regulator of ABL, is fused to MLL in a case of infant M5 acute myeloid leukemia involving 4q35 and 11q23

Children with acute myeloid leukemia (AML) in Italy have a probability of event-free survival of 53% at 5 years.1 Acute myeloid leukemia associated with rearrangements involving the MLL gene

(translocations, duplications, inversions, deletions) are frequently found in infants and in patients with secondary leukemias following treatment with DNA topoisomerase-II inhibitors, and

are most often associated with the AML-M5 or -M4 FAB subtypes.2 The MLL gene (also called ALL-1 or HRX), located at 11q23, is involved in over 60 different translocations leading to gene

fusion and over 30 partner genes have so far been cloned and partially characterized.2 The most common translocation is the t(9;11)(p22;q23) giving rise to the MLL-AF9 fusion gene, while

other recurring translocations are the t(11;19)(q23;p13.3) and the t(11;19)(q23;p13.1), producing, respectively, the MLL-ENL and MLL-ELL oncogenes. Several studies have demonstrated that the

transcriptional effector functions of the MLL fusion partners are essential for leukemogenesis; however, there are few common characteristics among these partner proteins that can clarify

their role in leukemogenesis.2

We report the identification of ArgBP2 (Arg-binding-protein-2) as a new partner gene of MLL in a case of infant AML. A 3-month-old girl was diagnosed as having AML-M5. Her peripheral blood

mononuclear cell count was 131 × 106/ml. Peripheral blood and bone marrow smears showed 16 and 30% of blasts, respectively. Immunophenotypic analysis revealed that the leukemic blasts were

highly positive (from 42 to 77%) for CD14, CD15, CD33 and C11b.

This work was supported by grants from AIRC (to AP and LLN and a Regional Grant), MURST/FISR, and by the University of Bologna (funds for selected research topics). LM and SS were supported

by AGEOP.

Department of Pediatrics, University of Bologna, Bologna, Italy

A Pession, L Montemurro, S Serravalle, R Fazzina & R Tonelli

Center of Pediatric Hematology Oncology, University of Catania, Catania, Italy

Department of Pathology and Cancer Center, University of Illinois, Chicago, IL, USA

Department of Genetics, University of Erlangen, Erlangen, Germany

Supplementary Information accompanies the paper on the Leukemia website (http://www.nature.com/leu)

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