Coexistence of alternative MLL-SEPT9 fusion transcripts in an acute myeloid leukemia with t(11;17)(q23;q25)

Cancer Genet Cytogenet. 2010 Feb;197(1):60-4. doi: 10.1016/j.cancergencyto.2009.10.010.

Abstract

We present the characterization at the RNA level of an acute myeloid leukemia with a t(11;17)(q23;q25) and a MLL rearrangement demonstrated by FISH. Molecular analysis led to the identification of two coexistent in-frame MLL-SEPT9 fusion transcripts (variants 1 and 2), presumably resulting from alternative splicing. Real-time quantitative RT-PCR analysis showed that the relative expression of the MLL-SEPT9 fusion variant 2 was 1.88 fold higher than the relative expression of MLL-SEPT9 fusion variant 1. This is the first description of a MLL-SEPT9 fusion resulting in coexistence of two alternative splicing variants, each of which previously found isolated in myeloid leukemias.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Alternative Splicing
  • Child
  • Chromosomes, Human, Pair 11*
  • Chromosomes, Human, Pair 17*
  • Cytoskeletal Proteins / genetics*
  • GTP-Binding Proteins / genetics*
  • Histone-Lysine N-Methyltransferase
  • Humans
  • Infant
  • Leukemia, Myeloid, Acute / genetics*
  • Male
  • Middle Aged
  • Myeloid-Lymphoid Leukemia Protein / genetics*
  • Oncogene Proteins, Fusion / genetics*
  • RNA, Messenger / analysis*
  • Septins
  • Translocation, Genetic*

Substances

  • Cytoskeletal Proteins
  • KMT2A protein, human
  • Oncogene Proteins, Fusion
  • RNA, Messenger
  • Myeloid-Lymphoid Leukemia Protein
  • Histone-Lysine N-Methyltransferase
  • GTP-Binding Proteins
  • SEPTIN6 protein, human
  • SEPTIN9 protein, human
  • Septins