J Korean Pediatr Soc.  2000 Oct;43(10):1364-1371.

Detection Limit of Minimal Residual Disease in Leukemia Using Fluorescence in situ Hybridization

• Lee JH
• Kim SY
• Kim HH
• Suh BK
• Lee WB
• Whang KT

Abstract

PURPOSE: The close relationship between the size of a tumor burden and the curability of acute leukemia is well established. Therefore, it is very irnportant to detect residual leukemia accurately at low levels. Fluorescence in situ hybridization(FISH) techniques rely on chromosome-specific and gene specific DNA probes to identify numerical and structural chromosomal abnormalities. But the detection limit of FISH in residual leukemia is still uncertain. So we evaluated the detection limit of residual leukemic cells with the chromosomal abnomualities on FISH.
METHODS
Cells with monosomy, trisomy and bcr/abl fusion were admixed with normal diploid cells in different concentrations of O%, 0.1%, 0.5%, 1%, 2.5%, 5%, 10%, 20% and 100%. Monosomy and trisomy cells were hybridized with chromosome 1 or 8 or X centromeric probes, and the cells with bcr/abl fusion were hybridized with bcr/abl probe and detected using FISH technique. The number of signals from 150 to 1000 cells were counted.
RESULTS
The detection limit was 1% in monosomy assay and 0.5% in trisomy and translocation assay. The proportion of cells showing each signal increased according to the increase of mixed cells.
CONCLUSION
FISH for detection of minimal residual leukemia is a sensitive and specific method which could detect at least 1Yo leukemic cells in the samples. Especially, cells with trisomy or translocation could be more easily detected. It could be also used for quantitative monitoring of leukemic cells.

Keyword

FISH; Minimal residual disease; Leukemia

MeSH Terms

Chromosome Aberrations
Chromosomes, Human, Pair 1
Diploidy
DNA Probes
Fluorescence*
In Situ Hybridization*
In Situ Hybridization, Fluorescence
Leukemia*
Limit of Detection*
Monosomy
Neoplasm, Residual*
Trisomy
Tumor Burden
DNA Probes