Chimeric BCR/ABL gene detected by fluorescence in situ hybridization in three new cases of Philadelphia chromosome-negative chronic myelocytic leukemia

Cancer Genet Cytogenet. 2003 Mar;141(2):114-9. doi: 10.1016/s0165-4608(02)00662-3.

Abstract

Three new cases are reported of cytogenetically Philadelphia-negative (Ph-) chronic myelocytic leukemia (CML), with positive BCR/ABL gene rearrangement according to a reverse transcriptase polymerase chain reaction technique. Fluorescence in situ hybridization (FISH) studies using different probes showed three different situations involving chromosomes 9 and 22 for the masked BCR/ABL fusion gene. With the use of BCR/ABL-extra signal and CEP 9 probes (Vysis, Downers Grove, IL, USA), FISH studies detected the BCR/ABL fusion gene at the end of chromosome 9 in patient 1, a BCR/ABL fusion gene on both chromosomes 22 in patient 2 (who was in an accelerated phase of CML), and a BCR/ABL fusion signal on chromosome 22 in patient 3. Interestingly, FISH interphase signals showed the same pattern in patients 1 and 3, but the BCR/ABL fusion gene was located on different chromosomes. Careful interpretation of the results and a simultaneous study of nuclei and metaphases are therefore recommended in each case. In conclusion, in cases of Ph- CML, FISH studies are of paramount importance since they can detect chromosomal reorganization and its location, and can also provide quantitative follow-up of these patients.

Publication types

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

MeSH terms

  • Adult
  • Aged
  • Chromosomes, Human, Pair 9
  • Female
  • Fusion Proteins, bcr-abl / genetics*
  • Genes, abl
  • Humans
  • In Situ Hybridization, Fluorescence*
  • Leukemia, Myelogenous, Chronic, BCR-ABL Positive / genetics*
  • Leukemia, Myeloid, Chronic, Atypical, BCR-ABL Negative / genetics*
  • Male
  • Middle Aged

Substances

  • Fusion Proteins, bcr-abl