The possible prognostic value of the position of the breakpoint within
the M-BCR in patients with Ph 1 + CML is still being debated. We anal
yzed the DNA rearrangements and the transcript types of 244 patients a
nd tried to correlate the data obtained with prognostic features, defi
ned according to Sokal's risk index, and with chronic phase and/or sur
vival duration. The exact location of the breakpoint, either 5' or 3'
to the Hind III restriction site within the M-BCR was identified. More
over, the exact M-BCR subregion was also identified. As a whole, 150 p
ts were rearranged in the 5' part and 94 in the 3' part of the M-BCR.
No correlation was observed between the site of rearrangement on the o
ne hand and the Sokal's prognostic index and survival, on the other. T
ranscript analysis was performed in 130 patients; 59 carried an a2b2 a
nd 69 an a,b3 pattern. Two patients carried both transcripts. Of the p
atients rearranged in the 5' area, according to Southern blotting, 29.
2% showed an a,b3 transcript. Therefore, RT-PCR analysis allowed a bet
ter definition of the breakpoint. However, also the type of transcript
did not show any correlation either with risk categories or survival.
No difference in response to therapy, either chemotherapy or alpha in
terferon, was observed between 5' and 3' rearranged patients.