A novel infant acute lymphoblastic leukemia cell line with MLL-AF5q31 fusion transcript

Leukemia. 2002 Nov;16(11):2302-8. doi: 10.1038/sj.leu.2402665.

Abstract

Infant acute lymphoblastic leukemia (ALL) is characterized by the presence of the proB phenotype (CD10(-)/CD19(+)), poor prognosis and frequent rearrangement of the mixed lineage leukemia (MLL) gene. The most frequent rearrangement is t(4;11)(q21;q23), the role of whose product, the MLL-AF4 fusion transcript, has been extensively studied in leukemogenesis. In a cell line of infant leukemia with MLL rearrangement denoted KP-L-RY, panhandle PCR amplification of cDNA revealed the presence of a fusion transcript, MLL-AF5q31, indicating that AF5q31 is also a partner gene of MLL. In this fusion transcript the MLL exon 6 is fused in frame to the 5' side of the putative transactivation domain of AF5q31. The AF5q31 protein is a member of the AF4/LAF4/FMR2-related family of proteins, which have been suggested to play a role in hematopoietic cell growth and differentiation. The MLL-AF5q31 fusion transcript, although probably rare, appears to be associated with the pathogenesis of infant ALL like MLL-AF4. Co-expression of HoxA9 and Meis1 genes in the KP-L-RY cell line indicated possible functional similarity between MLL-AF4 and MLL-AF5q31. Further understanding of the function of AF5q31 as well as the specific leukemogenic mechanism of MLL-AF5q31 awaits future studies.

Publication types

  • Case Reports

MeSH terms

  • Acute Disease
  • Artificial Gene Fusion
  • Biomarkers, Tumor / genetics*
  • Blotting, Southern
  • Cell Line
  • Chromosome Mapping
  • Chromosomes, Human, Pair 11 / genetics
  • Chromosomes, Human, Pair 4 / genetics
  • DNA Primers / chemistry
  • DNA, Neoplasm / analysis
  • Exons
  • Homeodomain Proteins / genetics
  • Homeodomain Proteins / metabolism
  • Humans
  • In Situ Hybridization, Fluorescence
  • Infant
  • Male
  • Myeloid Ecotropic Viral Integration Site 1 Protein
  • Myeloid-Lymphoid Leukemia Protein
  • Neoplasm Proteins / genetics*
  • Neoplasm Proteins / metabolism
  • Oncogene Proteins, Fusion / genetics*
  • Polymerase Chain Reaction
  • Precursor Cell Lymphoblastic Leukemia-Lymphoma / genetics*
  • Translocation, Genetic

Substances

  • Biomarkers, Tumor
  • DNA Primers
  • DNA, Neoplasm
  • Homeodomain Proteins
  • MEIS1 protein, human
  • MLL-AF4 fusion protein, human
  • Myeloid Ecotropic Viral Integration Site 1 Protein
  • Neoplasm Proteins
  • Oncogene Proteins, Fusion
  • homeobox protein HOXA9
  • Myeloid-Lymphoid Leukemia Protein