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Direct correlation of cytogenetic findings with cell morphology using in
situ hybridization: an analysis of suspicious cells in bone marrow
specimens of two patients completing therapy for acute lymphoblastic
leukemia
J Anastasi, JW Vardiman, R Rudinsky, M Patel, J Nachman, CM Rubin and MM Le Beau
Department of Pathology, University of Chicago, IL.
Bone marrow cells from two pediatric patients completing therapy for acute
lymphoblastic leukemia were studied using in situ hybridization with an
alpha-satellite DNA probe specific for chromosome 17. Morphologic analysis
of the end-therapy specimens from each patient had shown small numbers
(7.5%, 8.5%) of cells that were suspicious for residual or recurrent
disease. These cells could not be morphologically or immunophenotypically
distinguished with certainty from immature lymphoid cells (hematogones),
which may be present normally, sometimes in increased numbers, in the bone
marrow specimens of children. In situ hybridization with a probe to
chromosome 17 was used because the leukemic cells from each patient had
originally been shown to have an extra copy of this chromosome. In one
patient, in situ studies showed a population of cells (106 of 1,000 cells)
with three hybridization signals indicating trisomy 17, and thus
residual/recurrent leukemia. In the other patient trisomy 17 could not be
detected. Additional hybridizations to previously stained bone marrow
aspirate smears permitted a direct correlation of the cytogenetic findings
with the suspicious cells on a cell-to-cell basis. The questionable cells
were identified, photographed, and then re-examined after hybridization. In
one patient, 13 of 18 (72%) of the suspicious cells were found to have
trisomy 17, whereas in the other patient 0 of 24 (0%) demonstrated an extra
copy of this chromosome. These cases illustrate a clinical application of
interphase cytogenetic analysis and demonstrate how this technology can be
used for direct correlation of cytogenetic findings with cell morphology.
This technique should prove useful for the detection of minimal residual
disease and for lineage studies in leukemia and myelodysplasia.
Volume 77,
Issue 11,
pp. 2456-2462,
06/01/1991
Copyright © 1991 by The American Society of Hematology
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