A comparative analysis of FISH, RT-PCR, and cytogenetics for the diagnosis of bcr-abl-positive leukemias

Am J Clin Pathol. 1998 Jan;109(1):24-31. doi: 10.1093/ajcp/109.1.24.

Abstract

Philadelphia (Ph) chromosome-positive leukemias, with the bcr-abl gene translocation, have a dismal prognosis. The identification of Ph-positive patients is vitally important because only aggressive therapeutic approaches, such as allogeneic bone marrow transplantation, may result in long-term disease-free survival. Routine diagnostic methods, such as Southern blot analysis and cytogenetics, may lead to false-negative results. Reverse transcriptase-polymerase chain reaction (RT-PCR) analysis is considered the most sensitive tool for the detection of the bcr-abl translocation, and it is widely used alone or in combination with karyotyping or Southern blot analysis to identify Ph-positive cases. In this study, we used fluorescence in situ hybridization (FISH) with BCR and ABL double-color probes for detecting Ph-positive leukemias. The FISH results were compared with the results of cytogenetic and RT-PCR analyses in 75 patients with leukemia or other myeloproliferative syndromes (chronic myeloid leukemia, 30; acute lymphoblastic leukemia, 24; acute myelogenous leukemia, 6; essential (hemorrhagic) thrombocythemia, 12; chronic myelomonocytic leukemia, 2; and polycythemia vera, 1). FISH analysis proved to be simple, extremely reliable and sensitive; bcr-abl fusion detection was successful in the presence of all types of molecular junctions i.e., (b2a2, b3a2, and e1a2). Furthermore, a Ph-positive case that proved fusion negative by RT-PCR was identified as positive by FISH. The sensitivity of RT-PCR and FISH related to Ph-positive cases were 97% and 100%, respectively. Regarding specificity, in 4 (5%) of 75 patients, RT-PCR provided false-positive results. Cross-contamination was identified because a new specimen was harvested and reanalyzed when FISH, cytogenetics, and RT-PCR results were contradictory. We believe FISH is an optimal diagnostic method to detect bcr-abl translocation that can be used alone or to validate the results of RT-PCR analysis.

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Bone Marrow / chemistry
  • Chromosome Banding
  • Fluorescent Dyes / analysis
  • Fusion Proteins, bcr-abl / genetics*
  • Humans
  • In Situ Hybridization, Fluorescence
  • Karyotyping
  • Leukemia / genetics*
  • Leukemia, Myelogenous, Chronic, BCR-ABL Positive / genetics
  • Leukemia, Myeloid, Acute / genetics
  • Leukemia, Myelomonocytic, Chronic / genetics
  • Leukocytes / chemistry
  • Myeloproliferative Disorders / genetics*
  • Oncogene Proteins / genetics*
  • Polycythemia Vera / genetics
  • Polymerase Chain Reaction
  • Protein-Tyrosine Kinases*
  • Proto-Oncogene Proteins c-abl / genetics*
  • Proto-Oncogene Proteins c-bcr
  • Proto-Oncogene Proteins*
  • RNA, Neoplasm / analysis
  • Thrombocythemia, Essential / genetics
  • Translocation, Genetic*

Substances

  • Fluorescent Dyes
  • Oncogene Proteins
  • Proto-Oncogene Proteins
  • RNA, Neoplasm
  • Protein-Tyrosine Kinases
  • Fusion Proteins, bcr-abl
  • Proto-Oncogene Proteins c-abl
  • BCR protein, human
  • Proto-Oncogene Proteins c-bcr