Detection of trisomy 8 by fluorescence in situ hybridization on bone marrow smears from patients with subtle...

Trisomy 8 is the most common hyperdiploid numerical chromosomal abnormality that is found in myelodysplastic syndromes (MDSs). We explored the utility of combining fluorescence in situ hybridization interphase cytogenetics with routine morphologic analysis to characterize cases for which signs and symptoms were suggestive of MDS in which dysplastic changes were insufficient for a definitive diagnosis. Hybridization with a chromosome 8-specific centromeric probe was performed on bone marrow smears that were obtained from four patients with cytogenetically documented trisomy 8 and hematopoietic cell atypia that was suggestive but not diagnostic of MDS. Signals that corresponded to trisomy 8 were detected in 14.6% to 32.2% of the cells (detection threshold of trisomic clone, 5.0%). The conditions of two patients have remained hematologically stable with no disease progression, and these two patients are now considered to have refractory anemia. The conditions of the other two patients rapidly progressed to morphologically recognizable MDSs. This study demonstrates that the detection of trisomy 8 by fluorescence in situ hybridization can provide useful supplemental information in bone marrow specimens with morphologic changes that are suggestive of but not sufficient for a diagnosis of MDS. It should prove to be useful when standard cytogenetic analysis has not been performed or when it is not readily available.