title: MLL-SEPT6 fusion transcript with a novel sequence in an infant with acute myeloid leukemia.
abstract: The MLL gene at 11q23 is a site of frequent rearrangement in acute leukemia with multiple fusion partners. A relatively uncommon rearrangement, associated with infant AML-M4, fuses the MLL and SEPT6 genes. SEPT6, located at Xq24, is a member of a family of mammalian septins involved in diverse functions such as cytokinesis, cell polarity, and oncogenesis. We describe the case of an infant with acute myelogenous leukemia who showed cytogenetic evidence of rearrangement between 11q23 and Xq24 regions. Fluorescence in situ hybridization analysis suggested a possible break in the MLL gene, and molecular analysis using reverse transcriptase-polymerase chain reaction followed by sequencing confirmed the expression of an MLL-SEPT6 fusion transcript with a novel sequence. The findings emphasize the importance of combined cytogenetic and molecular analyses in the workup of acute leukemia, especially in those leukemias that occur infrequently.
authors.affiliation: Department of Pathology, University of Illinois Medical Center at Chicago, Chicago, IL 60612, USA.
authors.forename: ShriHari S
authors.initials: SS
authors.lastname: Kadkol
authors.forename: Annette
authors.initials: A
authors.lastname: Bruno
authors.forename: Steven
authors.initials: S
authors.lastname: Oh
authors.forename: Mary Lou
authors.initials: ML
authors.lastname: Schmidt
authors.forename: Valerie
authors.initials: V
authors.lastname: Lindgren
mesh_terms: D001483:Base Sequence; D002880:Chromosomes, Human, Pair 11 / Q000235:genetics; D041321:Chromosomes, Human, X / Q000235:genetics; D015972:Gene Expression Regulation, Neoplastic / Q000235:genetics*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D007621:Karyotyping; D015470:Leukemia, Myeloid, Acute / Q000235:genetics*; D008297:Male; D015514:Oncogene Proteins, Fusion / Q000235:genetics*; D012333:RNA, Messenger / Q000235:genetics / Q000378:metabolism; D014158:Transcription, Genetic / Q000235:genetics
chemical_list: C512503:MLL-SEPT6 fusion protein, human; D015514:Oncogene Proteins, Fusion; D012333:RNA, Messenger