title: Analyzing acute leukemia patients with complex MLL rearrangements by a sequential LDI-PCR approach.
abstract: Translocations involving MLL gene are common among children with acute leukemias. Most importantly, the presence of a given MLL fusion partner dictates the outcome of patients. Patients with complex MLL rearrangements, e.g. three-way translocations could be related to a poor clinical outcome. For this purpose, we characterize 5 childhood patients with three-way translocations involving MLL gene. By LDI-PCR we identified 15 out of 17 fusion alleles and determined the localization of these breakpoints. In all cases at least one functional MLL fusion allele was present. In addition, patients displayed a remaining 3'-MLL allele that allow in principle the expression of the MLL* protein variant.
authors.affiliation: Stem Cell Laboratory, Bone Marrow Transplantation Unit, National Cancer Institute (INCA), Rio de Janeiro, RJ, Brazil. rbgomes@inca.gov.br
authors.forename: Renata
authors.initials: R
authors.lastname: Binato
authors.forename: Claus
authors.initials: C
authors.lastname: Meyer
authors.forename: Maria Luiza
authors.initials: ML
authors.lastname: Macedo-Silva
authors.forename: Daniela
authors.initials: D
authors.lastname: Garcia
authors.forename: Amanda
authors.initials: A
authors.lastname: Figueiredo
authors.forename: Julia
authors.initials: J
authors.lastname: Hofmann
authors.forename: Tarsis Paiva
authors.initials: TP
authors.lastname: Vieira
authors.forename: Eliana
authors.initials: E
authors.lastname: Abdelhay
authors.forename: Rolf
authors.initials: R
authors.lastname: Marschalek
mesh_terms: D001483:Base Sequence; D002675:Child, Preschool; D005260:Female; D015321:Gene Rearrangement; D011495:Histone-Lysine N-Methyltransferase; D006801:Humans; D007223:Infant; D015470:Leukemia, Myeloid, Acute / Q000235:genetics*; D008297:Male; D008969:Molecular Sequence Data; D051788:Myeloid-Lymphoid Leukemia Protein / Q000235:genetics*; D015514:Oncogene Proteins, Fusion / Q000235:genetics; D016133:Polymerase Chain Reaction / Q000379:methods; D054198:Precursor Cell Lymphoblastic Leukemia-Lymphoma / Q000235:genetics*; D014178:Translocation, Genetic
chemical_list: C497422:KMT2A protein, human; D015514:Oncogene Proteins, Fusion; D051788:Myeloid-Lymphoid Leukemia Protein; D011495:Histone-Lysine N-Methyltransferase
keywords: Acute leukemia; Complex karyotypes; MLL rearrangements; Molecular cytogenetic