Rearrangement of the MLL gene and a region proximal to the RARalpha gene in a case of acute myelocytic leukemia M5 with a t(11;17)(q23;q21)

Cancer Genet Cytogenet. 2003 Aug;145(1):54-9. doi: 10.1016/s0165-4608(03)00056-6.

Abstract

A case of acute myelocytic leukemia (AML) M5 subtype (French-American-British classification), in a 13-year-old girl showed the abnormal karyotype 46,XX,t(11;17)(q23;q21) in all bone marrow cells analyzed. Rearrangements involving 11q23 are frequent in cases of AML M5 and often involve the MLL gene. Nevertheless, t(11;17)(q23;q21) is very rare in this type of leukemia. In acute promyelocytic leukemia, the RARalpha gene, located at 17q21, is involved in almost all cases. Fluorescence in situ hybridization studies revealed a deletion of the C-terminal part of the MLL gene and a translocation of the RARalpha gene on the derivative chromosome 11, proximal to the remaining part of the MLL gene. However, hybridization with the LSI RARA dual color break-apart rearrangement probe showed that the RARalpha gene was not rearranged in this translocation. This is the first study reporting a t(11;17)(q23;q21) with a deletion distal to MLL gene exon 6 in a case of AML M5. Furthermore, this is the second study that strongly suggests the implication of a gene proximal and close to the RARalpha locus in a case of AML M5. According to these results, the discovery of new fusion partner genes of MLL and the precise characterization of t(11;17) will be important for the understanding of neoplastic cell differentiation in AML M5.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Chromosomes, Human, Pair 11*
  • Chromosomes, Human, Pair 17*
  • DNA-Binding Proteins / genetics*
  • Female
  • Gene Rearrangement
  • Histone-Lysine N-Methyltransferase
  • Humans
  • Karyotyping
  • Leukemia, Monocytic, Acute / genetics*
  • Myeloid-Lymphoid Leukemia Protein
  • Proto-Oncogenes*
  • Receptors, Retinoic Acid / genetics*
  • Transcription Factors*
  • Translocation, Genetic*

Substances

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