Problems with interphase fluorescence in situ hybridization in detecting BCR/ABL-positive cells in some patients using a novel technique with extra signals

Cancer Genet Cytogenet. 2001 Jun;127(2):111-7. doi: 10.1016/s0165-4608(00)00371-x.

Abstract

Interphase fluorescence in situ hybridization (I-FISH) is frequently used to monitor the response to therapy in various hematological malignancies. We performed a comparison of I-FISH, metaphase FISH (C-FISH), conventional cytogenetics, spectral karyotyping (SKY) and PCR for the detection of the t(9;22) and the BCR/ABL rearrangement in 32 patients with chronic myelogenous leukemia (CML). FISH was done using a novel commercial probe set (VYSIS LSI BCR/ABL ES), which is designed to reduce the rate of false-positive results by marking the argininosuccinate synthetase (ASS) gene and thus providing an extra signal on chromosome 9. Our data indicate, that a substantial number of BCR/ABL-positive patients (n=5 patients, 3 with Ph, 2 with masked Ph) present negative results using this probe set in I-FISH analyses, because they did not fulfill the scoring criteria. In fact, the ASS region, which usually remains on 9q in Ph+ CML, appears to be lost or translocated. Due to these results we recommend that the initial diagnosis as well as the follow-up of patients with Ph+ leukemias should not be based on a single technique but should integrate results of cytogenetics and molecular biology.

Publication types

  • Comparative Study

MeSH terms

  • Bone Marrow / pathology
  • Chromosome Banding
  • Chromosomes, Human, Pair 22
  • Chromosomes, Human, Pair 9
  • Fusion Proteins, bcr-abl / analysis
  • Fusion Proteins, bcr-abl / genetics*
  • Humans
  • In Situ Hybridization, Fluorescence / methods*
  • Interphase
  • Karyotyping
  • Leukemia, Myelogenous, Chronic, BCR-ABL Positive / blood
  • Leukemia, Myelogenous, Chronic, BCR-ABL Positive / genetics*
  • Leukemia, Myelogenous, Chronic, BCR-ABL Positive / pathology
  • Metaphase
  • Reproducibility of Results
  • Reverse Transcriptase Polymerase Chain Reaction
  • Translocation, Genetic

Substances

  • Fusion Proteins, bcr-abl