title: Two cases of acute myeloid leukemia with t(11;17) associated with varying morphology and immunophenotype: rearrangement of the MLL gene and a region proximal to the RARalpha gene.
abstract: This report describes 2 cases of acute myeloid leukemia (AML), which based on the WHO classification would be classified as AML with an 11q23 (MLL) abnormality, but with contrasting morphologic and immunophenotypic profiles. One case had monocytic features (morphologically and immunophenotypically) with a t(11;17)(q23;q21), a previously identified variant translocation in acute promyelocytic leukemia (APL). The second case had morphologic and immunophenotypic features of APL associated with a t(11;17)(q23;q25). In both cases, fluorescence-in-situ hybridization (FISH) analysis demonstrated that the 11q23 breakpoint involved the MLL gene, but RARalpha was not involved in the 17q breakpoints. These cases illustrate the importance of FISH analysis to confirm the presence of a particular recurring rearrangement.
authors.affiliation: Division of Hematopathology, Department of Pathology and Laboratory Medicine, Campus Box 7525, University of North Carolina, Chapel Hill, NC 27599-7525, USA.
authors.forename: Loveleen C
authors.initials: LC
authors.lastname: Kang
authors.forename: Scott V
authors.initials: SV
authors.lastname: Smith
authors.forename: Kathleen
authors.initials: K
authors.lastname: Kaiser-Rogers
authors.forename: Kathleen
authors.initials: K
authors.lastname: Rao
authors.forename: Cherie H
authors.initials: CH
authors.lastname: Dunphy
mesh_terms: D000208:Acute Disease; D002880:Chromosomes, Human, Pair 11; D002886:Chromosomes, Human, Pair 17; D004268:DNA-Binding Proteins / Q000235:genetics*; D005260:Female; D015321:Gene Rearrangement; D011495:Histone-Lysine N-Methyltransferase; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D007951:Leukemia, Myeloid / Q000235:genetics* / Q000473:pathology; D008297:Male; D008875:Middle Aged; D051788:Myeloid-Lymphoid Leukemia Protein; D011519:Proto-Oncogenes / Q000235:genetics*; D018168:Receptors, Retinoic Acid / Q000235:genetics*; D000072482:Retinoic Acid Receptor alpha; D014157:Transcription Factors / Q000235:genetics*; D014178:Translocation, Genetic
chemical_list: D004268:DNA-Binding Proteins; C497422:KMT2A protein, human; C000607071:RARA protein, human; D018168:Receptors, Retinoic Acid; D000072482:Retinoic Acid Receptor alpha; D014157:Transcription Factors; D051788:Myeloid-Lymphoid Leukemia Protein; D011495:Histone-Lysine N-Methyltransferase