Essential thrombocythemia (ET) was diagnosed clinically in three patie
nts. Karyotypic analysis and reverse transcription polymerase chain re
action for the bcr-abl chimeric transcript showed that two were Philad
elphia chromosome (Ph) positive, bcr-abl positive, whereas the third w
as Ph negative, bcr-abl positive. The first patient received an alloge
neic bone marrow transplantation but relapsed as localized blastic tra
nsformation, thus behaving similarly to chronic myeloid leukemia (CML)
. However, the other patients showed clinical courses more in keeping
with ET. Essential thrombocythemia with BCR rearrangements may resembl
e CML but there are clinical differences. These may be due to genetic
changes in addition to the BCR rearrangement.