This study concerns a patient with minor (m)-BCR/ABL transcript-positive ki
nd Philadelphia (Ph) chromosome-negative myelodysplastic syndrome (MDS). Th
e patient was a 78-year-old man whose condition was diagnosed as refractory
anemia with excess of blasts in transformation. Molecular genetic studies,
using reverse transcriptase polymerase chain reaction analysis detected m-
BCR/ABL messenger RNA. We used spectral karyotyping to analyze metaphase ce
lls but could not detect a Ph chromosome. Fluorescence in situ hybridizatio
n, however, revealed fusion signals of BCR and ABL probes on an apparently
normal chromosome 22. (C) 2001 The Japanese Society of Hematology.