MLL-SEPT6 fusion transcript with a novel sequence in an infant with acute myeloid leukemia.
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.
Kadkol
ShriHari S
SS
Department of Pathology, University of Illinois Medical Center at Chicago, Chicago, IL 60612, USA.
Bruno
Annette
A
Oh
Steven
S
Schmidt
Mary Lou
ML
Lindgren
Valerie
V
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
C512503:MLL-SEPT6 fusion protein, human; D015514:Oncogene Proteins, Fusion; D012333:RNA, Messenger