Fluorescence in situ hybridization: a sensitive method for trisomy 8
detection in bone marrow specimens
RB Jenkins, MM Le Beau, WJ Kraker, TJ Borell, PG Stalboerger, EM Davis, L Penland, A Fernald, R Espinosa and DJ Schaid
Section of Laboratory Genetics, Mayo Clinic and Foundation, Rochester, MN
55905.
Trisomy 8 is a common anomaly in bone marrow (BM) cells of patients with
myeloproliferative disorders (MPD), myelodysplastic syndromes (MDS), or
acute nonlymphocytic leukemia (ANLL). We studied the efficacy of
fluorescence in situ hybridization (FISH) detection of trisomy 8 in
patients with MPD, MDS, or ANLL using directly labeled fluorescent
alpha-satellite and whole chromosome paint (WCP) DNA probes specific for
chromosome 8. Using FISH, we analyzed interphase nuclei and metaphase
spreads from randomized series of BM specimens from normal individuals and
patients with varying proportions of trisomy 8 as determined by
conventional cytogenetic analysis. The BM of all normal donors contained
less than or equal to 2.0% nuclei with 3 interphase FISH signals and less
than or equal to 1 metaphase with 3 WCP FISH signals. Ninety-five percent
and 98% of BM specimens with at least two metaphase cells with trisomy 8 by
cytogenetic analysis contained greater than 2.0% nuclei with 3 interphase
FISH and greater than 2 metaphases with 3 WCP FISH signals, respectively.
Thirteen patients had 1 in 20 or 1 in 30 metaphase cells with trisomy 8 by
conventional cytogenetic studies. Of these patients, four had greater than
2.0% nuclei with 3 interphase FISH signals. The BM of all four patients
contained positive metaphase FISH results. We then studied the usefulness
of FISH analysis to detect occult trisomy 8 by analyzing BM nuclei from 144
patients who had MPD, MDS, or ANLL and either 20 normal metaphase cells or
an abnormal karyotype without trisomy 8. Seven patients had greater than
2.0% nuclei with 3 interphase FISH signals (range, 2.10% to 3.40%) and six
patients had 2 or more cells with trisomy 8 upon metaphase FISH or
extensive conventional cytogenetic analysis. Our results show that
interphase and metaphase FISH analyses are useful methods to detect trisomy
8 cells in BM specimens, especially for specimens with normal or uncertain
conventional cytogenetic results.
Volume 79,
Issue 12,
pp. 3307-3315,
06/15/1992
Copyright © 1992 by The American Society of Hematology
