title: Evidence-based RT-PCR methods for the detection of the 8 most common MLL aberrations in acute leukemias.
abstract: MLL aberrations are detected in around 5-10% of acute myeloid and lymphatic leukemias and an additional 5% of acute myeloid leukemias show a partial internal MLL duplication (PTD). MLL rearrangements are important for therapy stratification, assessment of minimal residual disease and for targeted therapies. However, no truly evidence-based RT-PCR methods for the detection of most of these aberrations have been published yet. Based on the large data collection of MLL genomic breakpoints in acute leukemias comprising more than 1.600 cases at the Diagnostic Center for Acute Leukemias (DCAL) in Frankfurt, Germany that provide an overview over the experimentally observed fusion transcript variants, we developed RT-PCR methods for the reliable detection of the 8 most common MLL aberrations (MLL-AF4, MLL-AF6, MLL-AF9, MLL-AF10, MLL-ENL, MLL-ELL, MLL-EPS15, MLL PTD), together accounting for around 90% of MLL-r cases. The easily implementable RT-PCRs should enable a reliable detection of these MLL fusion transcripts by RT-PCR.
authors.affiliation: Charité, Med. Dept. for Hematology, Oncology and Tumorimmunology, Berlin, Germany. Electronic address: thomas.burmeister@charite.de.
authors.forename: Thomas
authors.initials: T
authors.lastname: Burmeister
authors.affiliation: Diagnostic Center of Acute Leukemia (DCAL), Institute of Pharmaceutical Biology, Biocenter, Goethe University Frankfurt, Frankfurt, Germany.
authors.forename: Claus
authors.initials: C
authors.lastname: Meyer
authors.affiliation: Charité, Med. Dept. for Hematology, Oncology and Tumorimmunology, Berlin, Germany.
authors.forename: Daniela
authors.initials: D
authors.lastname: Gröger
authors.affiliation: Diagnostic Center of Acute Leukemia (DCAL), Institute of Pharmaceutical Biology, Biocenter, Goethe University Frankfurt, Frankfurt, Germany.
authors.forename: Julia
authors.initials: J
authors.lastname: Hofmann
authors.affiliation: Diagnostic Center of Acute Leukemia (DCAL), Institute of Pharmaceutical Biology, Biocenter, Goethe University Frankfurt, Frankfurt, Germany.
authors.forename: Rolf
authors.initials: R
authors.lastname: Marschalek
mesh_terms: D045744:Cell Line, Tumor; D011495:Histone-Lysine N-Methyltransferase; D006801:Humans; D015470:Leukemia, Myeloid, Acute / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D051788:Myeloid-Lymphoid Leukemia Protein / Q000235:genetics* / Q000378:metabolism; D015514:Oncogene Proteins, Fusion / Q000235:genetics / Q000378:metabolism*; D054198:Precursor Cell Lymphoblastic Leukemia-Lymphoma / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D020133:Reverse Transcriptase Polymerase Chain Reaction
chemical_list: C497422:KMT2A protein, human; D015514:Oncogene Proteins, Fusion; D051788:Myeloid-Lymphoid Leukemia Protein; D011495:Histone-Lysine N-Methyltransferase
keywords: Acute lymphoblastic leukemia; Acute myeloid leukemia; Mixed lineage leukemia; RT-PCR standardization