MLL tandem duplication in two cases of acute myelocytic leukemia with unbalanced translocations: der(16)t(11;16)(q23;p13) and der(18)t(11;18)(q22;p11.2)

Cancer Genet Cytogenet. 2003 Apr 1;142(1):8-12. doi: 10.1016/s0165-4608(02)00736-7.

Abstract

We describe two cases of acute myelocytic leukemia (AML), classified as M4 and M1 in the French-American-British classification, with unbalanced translocations der(16)t(11;16)(q23;p13) and der(18)t(11;18) (q22;p11.2), respectively. Molecular studies using Southern blot and reverse transcriptase-polymerase chain reaction showed an MLL rearrangement due to an internal duplication of the gene in both cases. Fluorescence in situ hybridization disclosed the presence of an extra copy of the MLL gene on 16p13 and 18p11.2, respectively, as a result of the partial trisomy of chromosome 11q. Our two cases clearly show that tandem duplication of the MLL gene may occur in AML with a partial 11q trisomy. Thus, systematic screening of this molecular defect should be performed in patients with unbalanced translocations involving 11q22 approximately q23-->qter.

Publication types

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

MeSH terms

  • Adult
  • Blotting, Southern
  • Chromosomes, Human*
  • Cytogenetic Analysis
  • DNA-Binding Proteins / genetics*
  • Female
  • Gene Duplication*
  • Histone-Lysine N-Methyltransferase
  • Humans
  • In Situ Hybridization, Fluorescence
  • Leukemia, Myeloid, Acute / etiology
  • Leukemia, Myeloid, Acute / genetics*
  • Leukemia, Myeloid, Acute / therapy
  • Male
  • Middle Aged
  • Myeloid-Lymphoid Leukemia Protein
  • Proto-Oncogenes*
  • Reverse Transcriptase Polymerase Chain Reaction
  • Transcription Factors*
  • Translocation, Genetic*

Substances

  • DNA-Binding Proteins
  • KMT2A protein, human
  • Transcription Factors
  • Myeloid-Lymphoid Leukemia Protein
  • Histone-Lysine N-Methyltransferase