Detection of minimal residual disease state in chronic myelogenous leukemia patients using fluorescence in situ hybridization

Aliza Amiel*, Shai Yarkoni, Shimon Slavin, Reuven Or, Haya Lorberboum-Galski, Moshe Fejgin, Arnon Nagler

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

35 Scopus citations

Abstract

Detection of minimal residual disease and relapse remain major problems in chronic myelogenous leukemia (CML) patients following bone marrow transplantation (BMT). In order to disclose the 9;22 Philadelphia translocation, we used a fluorescence in situ hybridization (FISH) technique. BCR and ABL gene fragments were used as probes for the detection of the BCR/ABL fusion product in peripheral blood and bone marrow cells from 11 CML patients in which 5 were post-BMT. The sensitivity and specificity of this approach were compared to conventional cytogenetic and polymerase chain reaction (PCR) methods. FISH demonstrated a high degree of sensitivity (1%) for the detection of the BCR/ABL translocation in these patients. A linear correlation was found between FISH detection of the BCR/ABL fusion product and routine chromosomal analysis (r = 0.995; p < 0.001). Detection of the BCR/ABL signal by FISH was observed in all patients showing a positive PCR signal. A significant reduction in BCR/ABL signal was observed post-transplant (p < 0.001). However, the BCR/ABL translocation was detected in four of five transplanted patients immediately (0.75-2.5 months) following transplant and was found in patients with a low expression of the translocation.

Original languageEnglish
Pages (from-to)59-64
Number of pages6
JournalCancer Genetics and Cytogenetics
Volume76
Issue number1
DOIs
StatePublished - Aug 1994
Externally publishedYes

Funding

FundersFunder number
American Society of Human Genetics

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