title: A novel AF9 breakpoint in MLL-AF9-positive acute monoblastic leukemia.
abstract: MLL-AF9 is the most frequent MLL rearrangement in childhood acute myeloid leukemia (AML) and it may be also found in acute lymphoblastic leukemia (ALL) of patients younger than 1-year-old (infants). We report a novel AF9 breakpoint site, located between previously reported sites A and B, detected in an infant who was diagnosed with AML-FAB M5. The occurrence of this new breakpoint should be considered when designing RT-PCR assays for the screening of MLL abnormalities. The precise characterization of the MLL-AF9 transcript is important to carry out the minimal residual disease analysis during the follow-up of the patients.
authors.affiliation: Molecular Biology Laboratory, Department of Hematology-Oncology, Hospital de Pediatría SAMIC "Prof. Dr. J. P. Garrahan", Buenos Aires, Argentina. calonso@garrahan.gov.ar
authors.forename: Cristina N
authors.initials: CN
authors.lastname: Alonso
authors.forename: Patricia L Rubio
authors.initials: PL
authors.lastname: Longo
authors.forename: Marta S
authors.initials: MS
authors.lastname: Gallego
authors.forename: Adriana
authors.initials: A
authors.lastname: Medina
authors.forename: María S
authors.initials: MS
authors.lastname: Felice
mesh_terms: D005260:Female; D006801:Humans; D007223:Infant; D015470:Leukemia, Myeloid, Acute / Q000235:genetics*; D051788:Myeloid-Lymphoid Leukemia Protein / Q000235:genetics*; D015514:Oncogene Proteins, Fusion / Q000235:genetics*; D020133:Reverse Transcriptase Polymerase Chain Reaction; D014178:Translocation, Genetic
chemical_list: C474558:MLL-AF9 fusion protein, human; D015514:Oncogene Proteins, Fusion; D051788:Myeloid-Lymphoid Leukemia Protein