Breakpoint characterization of der(9) deletions in chronic myeloid leukemia patients

Genes Chromosomes Cancer. 2002 Nov;35(3):271-6. doi: 10.1002/gcc.10116.

Abstract

Deletions adjacent to the 9/22 translocation breakpoint on the derivative chromosome 9 have recently been described in a substantial number of chronic myeloid leukemia (CML) cases, but their extension has not been characterized in detail. Using FISH with an appropriate set of BAC/PAC probes, we have characterized the deletion in 10 CML cases, identified by screening 71 patients at diagnosis. Five patients showed a complex chromosome rearrangement and 3 of them were deleted. The size of the deletion was variable, ranging from few hundreds kb to 8 Mb. A minimally deleted region on both chromosomes 9 and 22 was identified and was found to contain the ASS gene on chromosome 9 and IGLL1 on chromosome 22.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Argininosuccinate Synthase / genetics
  • Bone Marrow Cells / pathology
  • Chromosome Breakage / genetics*
  • Chromosome Deletion*
  • Chromosomes, Artificial, Bacterial / genetics
  • Chromosomes, Artificial, P1 Bacteriophage / genetics
  • Chromosomes, Human, Pair 22 / genetics
  • Chromosomes, Human, Pair 9 / genetics*
  • DNA Probes / genetics
  • DNA, Neoplasm / genetics
  • Fusion Proteins, bcr-abl / genetics
  • Genetic Markers / genetics
  • Humans
  • In Situ Hybridization, Fluorescence / methods
  • Interferon-alpha / therapeutic use
  • Leukemia, Myelogenous, Chronic, BCR-ABL Positive / drug therapy
  • Leukemia, Myelogenous, Chronic, BCR-ABL Positive / genetics*
  • Leukemia, Myelogenous, Chronic, BCR-ABL Positive / pathology
  • Male
  • Remission Induction / methods
  • Translocation, Genetic / genetics
  • Tumor Cells, Cultured

Substances

  • DNA Probes
  • DNA, Neoplasm
  • Genetic Markers
  • Interferon-alpha
  • Fusion Proteins, bcr-abl
  • Argininosuccinate Synthase